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Lista de obras de Jean-Laurent Casanova

4 Primary immunodeficiency mutation databases

article

A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation

artículo científico publicado en 2013

A 23-Year Follow-Up of a Patient with Gain-of-Function IkB-Alpha Mutation and Stable Full Chimerism After Hematopoietic Stem Cell Transplantation

artículo científico publicado en 2020

A 44-Year-Old Female With Overwhelming Sepsis

artículo científico publicado en 2019

A Brief Historical Perspective on the Pathological Consequences of Excessive Type I Interferon Exposure In vivo

artículo científico publicado en 2018

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis

scientific article published on 29 November 2018

A Fast Procedure for the Detection of Defects in Toll-like Receptor Signaling

scientific article published on 01 December 2006

A Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation

artículo científico publicado en 2018

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

artículo científico publicado en 2013

A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression

artículo científico publicado en 2015

A New Patient with Inherited TYK2 Deficiency

artículo científico publicado en 2019

A Note from the Editor-in-Chief, Deputy Editor, and Managing Editor

artículo científico publicado en 2015

A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate

artículo científico publicado en 2019

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child

artículo científico publicado en 1998

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

artículo científico publicado en 2019

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance

scientific article published on 25 July 2019

A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency

artículo científico publicado en 2020

A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis

artículo científico publicado en 2017

A genome-wide association study of pulmonary tuberculosis in Morocco

artículo científico publicado en 2016

A genome-wide case-only test for the detection of digenic inheritance in human exomes

artículo científico publicado en 2020

A global effort to define the human genetics of protective immunity to SARS-CoV-2 infection

scientific article published on 13 May 2020

A homozygous CARD9 mutation in a Brazilian patient with deep dermatophytosis

artículo científico publicado en 2015

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

artículo científico publicado en 2014

A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.

artículo científico publicado en 2015

A human inborn error connects the α's

artículo científico publicado en 2016

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

artículo científico publicado en 2003

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

artículo científico publicado en 2022

A major locus on chromosome 3p22 conferring predisposition to human herpesvirus 8 infection

artículo científico publicado en 2012

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant

artículo científico publicado en 2012

A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4

artículo científico publicado en 2014

A novel AIRE gene mutation in a patient with autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy revealed by alopecia areata.

artículo científico publicado en 2018

A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease

artículo científico publicado en 2007

A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells

artículo científico publicado en 2004

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

artículo científico publicado en 2009

A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors

artículo científico publicado en 2004

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

artículo científico publicado en 2010

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy

artículo científico publicado en 2013

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

artículo científico publicado en 2013

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

artículo científico publicado en 2005

A novel kindred with inherited STAT2 deficiency and severe viral illness

artículo científico publicado en 2017

A novel mutation in the POLE2 gene causing combined immunodeficiency.

artículo científico publicado en 2015

A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8.

artículo científico publicado en 2006

A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review

scientific article published on 12 April 2020

A partial form of recessive STAT1 deficiency in humans

artículo científico publicado en 2009

A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome

artículo científico publicado en 2012

A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside

artículo científico publicado en 2013

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

artículo científico publicado en 2019

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

scientific article published on 01 November 2018

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

scientific article published on 01 June 2018

A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.

artículo científico publicado en 2013

A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivo

artículo científico publicado en 2008

A serpin shapes the extracellular environment to prevent influenza A virus maturation

artículo científico publicado en 2015

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia

artículo científico publicado en 2014

A three-dimensional model of human lung development and disease from pluripotent stem cells.

artículo científico publicado en 2017

A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome

artículo científico publicado en 2020

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

artículo científico publicado en 2021

A virus finds its natural killer

artículo científico publicado en 2001

AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity

artículo científico publicado en 2016

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease

artículo científico publicado en 2011

Actin polymerisation after FCγR stimulation of human fibroblasts is BCL10 independent.

artículo científico publicado en 2016

Adaptive immunity by convergent evolution.

artículo científico publicado en 2018

Addressing diagnostic challenges in primary immunodeficiencies: laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses

artículo científico publicado en 2014

Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood

artículo científico publicado en 2010

Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region

artículo científico publicado en 2013

Agranulocytose et déficit immunitaire transitoires après exposition fœtale à l'azathioprine et mésalazine

artículo científico publicado en 1999

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

artículo científico publicado en 2016

Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).

artículo científico publicado en 2010

An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis

artículo científico publicado en 2013

An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults

artículo científico publicado en 2006

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation

artículo científico publicado en 2017

An essential role for the Zn2+ transporter ZIP7 in B cell development

artículo científico publicado en 2019

An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome

artículo científico publicado en 2003

Analysis of the interleukin-12/interferon-γ pathway in children with non-tuberculous mycobacterial cervical lymphadenitis

article

Anti-IFN-γ autoantibodies are strongly associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across Southeast Asia

article

Antigen-selected T-cell receptor diversity and self-nonself homology

artículo científico publicado en 1993

Approach to recurrent Herpes Simplex Encephalitis in children.

artículo científico publicado en 2018

Arid5a makes the IL-17A/F-responsive pathway less arid

article by Anne Puel et al published 9 October 2018 in Science Signaling

Association between IFNA genotype and the risk of sarcoidosis

artículo científico publicado en 2004

Association between SARS-CoV-2 infection and Kawasaki-like multisystem inflammatory syndrome: a retrospective matched case-control study, Paris, France, April to May 2020

artículo científico publicado en 2020

Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco

artículo científico publicado en 2004

Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco

artículo científico publicado en 2014

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

artículo científico publicado en 2020

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

artículo científico publicado en 2010

Autoantibodies against cytokines: back to human genetics

artículo científico publicado en 2013

Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity

artículo científico publicado en 2003

Autoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection

artículo científico publicado en 2020

Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients

artículo científico publicado en 2003

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

artículo científico publicado en 2018

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis

artículo científico publicado en 2017

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey

artículo científico publicado en 2012

Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives

artículo científico publicado en 2006

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations

artículo científico publicado en 2020

Autosomal-dominant primary immunodeficiencies

artículo científico publicado en 2005

B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

artículo científico publicado en 2011

B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans

artículo científico publicado en 2010

BCG Moreau Vaccine Safety Profile and NK Cells-Double Protection Against Disseminated BCG Infection in Retrospective Study of BCG Vaccination in 52 Polish Children with Severe Combined Immunodeficiency

scientific article published on 20 November 2019

BCG-osis and tuberculosis in a child with chronic granulomatous disease

scholarly article by Jacinta Bustamante et al published July 2007 in The Journal of Allergy and Clinical Immunology

Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.

artículo científico publicado en 2010

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

artículo científico publicado en 2004

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

artículo científico publicado en 2018

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

artículo científico publicado en 2015

Biased amino acid distributions in regions of the T cell receptors and MHC molecules potentially involved in their association.

artículo científico publicado en 1991

Binding of low concentration of peptide to H-2Kd produced in insect cells requires mouse beta 2-microglobulin co-expression

artículo científico publicado en 1992

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

artículo científico publicado en 2018

Burkholderia pseudomallei infection in chronic granulomatous disease

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

artículo científico publicado en 2018

Can primary immunodeficiencies help to provide insights into infectious risks of therapeutic antibodies?

article by László Maródi & Jean-Laurent Casanova published May 2010 in Nature Reviews Immunology

Can the impact of human genetic variations be predicted?

artículo científico publicado en 2015

Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing

scientific article published on 17 July 2019

Capturing the biology of disease severity in a PSC-based model of familial dysautonomia

artículo científico publicado en 2016

Cellular and humoral aberrations in a kindred with IL-1 receptor–associated kinase 4 deficiency

scientific article published on 04 June 2007

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

artículo científico publicado en 2016

Chorioretinal lesions as the unique feature of complete chronic granulomatous disease in an 8-year-old girl

Chronic Disseminated Salmonellosis in a Patient with Interleukin- 12p40 Deficiency

artículo científico publicado en 2017

Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

artículo científico publicado en 2016

Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds

artículo científico publicado en 2014

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

scientific article published on 01 November 2019

Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity

artículo científico publicado en 2016

Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity

artículo científico publicado en 2011

Classic Kaposi sarcoma in 3 unrelated Turkish children born to consanguineous kindreds

artículo científico publicado en 2010

Cleaved/associated TLR3 represents the primary form of the signaling receptor

artículo científico publicado en 2012

Clinical consequences of defects in the IL-12-dependent interferon-gamma (IFN-gamma) pathway

artículo científico publicado en 2000

Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency

artículo científico publicado en 2010

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

artículo científico publicado en 2010

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency

artículo científico publicado en 2013

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

scientific article published in The Lancet

Clinical immunology Disseminated Mycobacterium tuberculosis complex infection in a girl with partial dominant IFN-γ receptor 1 deficiency

scholarly article by Malgorzata Pac et al published 2012 in Central-European Journal of Immunology

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

artículo científico publicado en 2016

Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.

artículo científico publicado en 2003

Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency

scientific article published on 23 December 2016

Comment on "Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency".

artículo científico publicado en 2009

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

scientific article published on 02 June 2020

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

artículo científico publicado en 2008

Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features

artículo científico publicado en 2006

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy

artículo científico publicado en 2014

Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module

artículo científico publicado en 2012

Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

artículo científico publicado en 2020

Correction to: Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity

artículo científico publicado en 2019

Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation

artículo científico publicado en 2020

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

artículo científico publicado en 2020

Correction: Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria

artículo científico publicado en 2017

Corrigendum to “Inborn errors of IL-12/23- and IFN-γ-mediated immunity: Molecular, cellular, and clinical features” [Semin. Immunol. 18 (2006) 347–361]

scholarly article published in Seminars in Immunology

Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.

artículo científico publicado en 2018

Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

artículo científico publicado en 2015

Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.

artículo científico publicado en 2014

Cutaneous infection with Metarhizium anisopliae in a patient with hypohidrotic ectodermal dysplasia and immune deficiency

artículo científico publicado en 2008

Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency

artículo científico publicado en 2006

Cutting edge: the UNC93B1 tyrosine-based motif regulates trafficking and TLR responses via separate mechanisms

artículo científico publicado en 2014

DOCK8 Drives Src-Dependent NK Cell Effector Function

artículo científico publicado en 2017

DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice

artículo científico publicado en 2011

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

artículo científico publicado en 2012

Deciphering Human Cell-Autonomous Anti-HSV-1 Immunity in the Central Nervous System

artículo científico publicado en 2015

Dedicator of cytokinesis 8-deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.

artículo científico publicado en 2016

Deep dermatophytosis and inherited CARD9 deficiency

artículo científico publicado en 2013

Defective priming of the phagocyte oxidative burst in a child with recurrent intracellular infections

artículo científico publicado en 1999

Defects in the CD19 complex predispose to glomerulonephritis, as well as IgG1 subclass deficiency

article

Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy

scientific article published on 04 August 2019

Deficiency of interleukin-1 receptor-associated kinase 4 presenting as fatal Pseudomonas aeruginosa bacteremia in two siblings

artículo científico publicado en 2015

Defining risk groups to yellow fever vaccine-associated viscerotropic disease in the absence of denominator data

artículo científico publicado en 2014

Definition of primary immunodeficiency in 2011: a “trialogue” among friends

article published in 2011

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency

artículo científico publicado en 2015

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

Differential response to interferon-γ therapy in a family with dominant negative partial interferon-γ receptor1 deficiency

Differential response to interferon-γ therapy in a family with dominant negative partial interferon-γ receptor1 deficiency

article

Dimethyl Fumarate Disrupts Human Innate Immune Signaling by Targeting the IRAK4-MyD88 Complex

scientific article published on 18 March 2019

Discovery of single-gene inborn errors of immunity by next generation sequencing

artículo científico publicado en 2014

Disentangling inborn and acquired immunity in human twins

artículo científico publicado en 2015

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

scientific article published on 20 August 2018

Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation

artículo científico publicado en 2016

Disseminated BCG osteomyelitis related to STAT 1 gene deficiency mimicking a metastatic neuroblastoma

artículo científico publicado en 2016

Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency.

artículo científico publicado en 2017

Disseminated Mycobacterial Disease in a Patient with 22q11.2 Deletion Syndrome: Case Report and Review of the Literature

scientific article published on 05 August 2019

Disseminated Mycobacterium avium complex infection in a child with partial dominant interferon gamma receptor 1 deficiency in India

artículo científico publicado en 2015

Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency

artículo científico publicado en 2005

Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain

artículo científico publicado en 2008

Disseminated Mycobacterium peregrinum infection in a child with complete interferon-gamma receptor-1 deficiency

artículo científico publicado en 2003

Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency

artículo científico publicado en 2009

Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1.

artículo científico publicado en 2017

Disseminated bacillus Calmette-Guérin infection and immunodeficiency

artículo científico publicado en 2007

Disseminated nontuberculous mycobacterial infection in a child with interferon-γ receptor 1 deficiency

article by Maria N. Tsolia et al published 7 April 2006 in European Journal of Pediatrics

Do not let them slip through the net: Catching a case of leaky severe combined immunodeficiency

artículo científico publicado en 2019

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

artículo científico publicado en 2012

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

artículo científico publicado en 2020

Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency

artículo científico publicado en 2019

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

artículo científico publicado en 2016

ENTEROVIRAL MENINGOENCEPHALITIS IN X-LINKED AGAMMAGLOBULINEMIA: INTENSIVE IMMUNOGLOBULIN THERAPY AND SEQUENTIAL VIRAL DETECTION IN CEREBROSPINAL FLUID BY POLYMERASE CHAIN REACTION

scientific article published on 01 November 2000

EVER2 deficiency is associated with mild T-cell abnormalities

artículo científico publicado en 2012

Early ''relapse'' after herpetic encephalitis: extensive white matter lesions in an infant with interferon production deficit

artículo científico publicado en 2010

Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient

scientific article published on 28 September 2018

Editorial

Editorial for JoCI.

artículo científico publicado en 2015

Editorial, Journal of Clinical Immunology

scientific article published on 01 November 2019

Effectiveness and safety of ruxolitinib for the treatment of refractory systemic idiopathic juvenile arthritis like associated with interstitial lung disease : a case report

artículo científico publicado en 2020

Efficacy of Dupilumab for Controlling Severe Atopic Dermatitis in a Patient with Hyper-IgE Syndrome

scientific article published on 28 January 2020

Efficacy of gene therapy for X-linked severe combined immunodeficiency

artículo científico publicado en 2010

Enteroviral meningoencephalitis after anti-CD20 (rituximab) treatment

artículo científico publicado en 2003

Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis

artículo científico publicado en 2018

Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses.

artículo científico publicado en 2018

Epithelial barrier dysfunction in desmoglein-1 deficiency

artículo científico publicado en 2018

Erratum to: Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

artículo científico publicado en 2016

Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

scholarly article published in Journal of Clinical Immunology

Erratum: Corrigendum: B cell–helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

scholarly article by Irene Puga et al published February 2014 in Nature Immunology

Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

artículo científico publicado en 2015

Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes

artículo científico publicado en 2008

Evolution of the Definition of Primary Immunodeficiencies

Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense

artículo científico publicado en 2009

Evolutionary genetic dissection of human interferons

artículo científico publicado en 2011

Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles

artículo científico publicado en 2006

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

artículo científico publicado en 2012

Experimental and natural infections in MyD88- and IRAK-4-deficient mice and humans

artículo científico publicado en 2012

Expression and characterization of recombinant mouse beta 2-microglobulin type a in insect cells infected with recombinant baculoviruses

artículo científico publicado en 1991

Extensive structural homology between H-2 K/D/L antigens and non-polymorphic class I Qa, Tla and “37” molecules suggests they may act as peptide carriers

artículo científico publicado en 1989

FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

artículo científico publicado en 2009

Familial NK cell deficiency associated with impaired IL-2- and IL-15-dependent survival of lymphocytes.

artículo científico publicado en 2006

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency

artículo científico publicado en 2020

Fatal varicella associated with selective natural killer cell deficiency

artículo científico publicado en 2005

Forward genetics of infectious diseases: immunological impact

article

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years

scientific article published on 15 May 2020

From idiopathic infectious diseases to novel primary immunodeficiencies

From infectious diseases to primary immunodeficiencies

artículo científico publicado en 2008

Functional STAT3 deficiency compromises the generation of human T follicular helper cells.

artículo científico publicado en 2012

Functional analysis of two STAT1 gain-of-function mutations in two Iranian families with autosomal dominant chronic mucocutaneous candidiasis

artículo científico publicado en 2020

Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation

scientific journal article

Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis

article

Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies.

artículo científico publicado en 2017

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

artículo científico publicado en 2011

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.

artículo científico publicado en 2016

Gain-of-glycosylation mutations

artículo científico publicado en 2007

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

artículo científico publicado en 2005

Gains of glycosylation mutations

artículo científico publicado en 2006

Gamma interferon is dispensable for neopterin production in vivo

artículo científico publicado en 2005

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

artículo científico publicado en 2016

Genetic and molecular definition of complementation group D in MHC class II deficiency

artículo científico publicado en 1998

Genetic dissection of immunity in leprosy

artículo científico publicado en 2005

Genetic dissection of immunity to mycobacteria: the human model

artículo científico publicado en 2001

Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity

artículo científico publicado en 2015

Genetic heterogeneity of Mendelian susceptibility to mycobacterial infection

artículo científico publicado en 2000

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases

artículo científico publicado en 2011

Genetic predisposition to clinical tuberculosis: bridging the gap between simple and complex inheritance

artículo científico publicado en 2000

Genetic predisposition to herpetic meningo-encephalitis in children

artículo científico publicado en 2010

Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans

artículo científico publicado en 2007

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease

scientific article published on 10 February 2020

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

artículo científico publicado en 2016

Genetics and immunity of tuberculosis

artículo científico publicado en 2005

Genome-wide Innate Immune Responsiveness Profiles of Patients with Inborn Errors of Toll-like Receptor Signaling

scholarly article by Laia Alsina et al published January 2010 in Clinical Immunology

Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection

artículo científico publicado en 2012

Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes

artículo científico publicado en 2016

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

artículo científico publicado en 2011

Glycosylation-Dependent IFN-γR Partitioning in Lipid and Actin Nanodomains Is Critical for JAK Activation.

artículo científico publicado en 2016

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.

artículo científico publicado en 2012

Growth of Mycobacterium bovis, Bacille Calmette-Guérin, within human monocytes-macrophages cultured in serum-free medium

scientific article published on 01 May 1999

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

artículo científico publicado en 2014

Génétique humaine de la tuberculose : un spectre continu de la prédisposition monogénique simple à l'hérédité polygénique complexe

artículo científico publicado en 2001

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

artículo científico publicado en 2014

HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency

artículo científico publicado en 2004

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

artículo científico publicado en 2012

Helper T cell immunity in humans with inherited CD4 deficiency

artículo científico publicado en 2024

Hematopoietic stem cell gene therapy for IFNγR1 deficiency protects mice from mycobacterial infections

artículo científico publicado en 2017

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients

scientific article published on 25 April 2019

Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry

artículo científico publicado en 2005

Hematopoietic stem cell transplantation for complete IFN-γ receptor 1 deficiency: A multi-institutional survey

article by Joachim Roesler et al published December 2004 in The Journal of Pediatrics

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

artículo científico publicado en 2017

Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients

artículo científico publicado en 2006

Hematopoietic stem cell transplantation in patients with severe Langerhans cell histiocytosis and hematological dysfunction: Experience of the French Langerhans Cell Study Group

article

Heritable defects of the human TLR signalling pathways

artículo científico publicado en 2005

Herpes in STAT1 gain-of-function mutation [corrected].

artículo científico publicado en 2012

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

scientific article published on 22 September 2020

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

artículo científico publicado en 2011

Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation

scientific article published on 25 November 2020

Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity

artículo científico publicado en 2011

Herpes simplex virus encephalitis in human UNC-93B deficiency

artículo científico publicado en 2006

Heterogeneity in the granulomatous response to mycobacterial infection in patients with defined genetic mutations in the interleukin 12-dependent interferon-gamma production pathway

artículo científico publicado en 2002

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis

scientific article published on 12 April 2013

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

artículo científico publicado en 2016

Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

artículo científico publicado en 2012

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis

scientific article published on 16 September 2020

High risk of infectious disease caused by salmonellae and mycobacteria infections in patients with Crohn disease treated with anti-interleukin-12 antibody

artículo científico publicado en 2005

Hodgkin lymphoma in 2 children with chronic granulomatous disease

artículo científico publicado en 2010

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

scientific article published on 08 May 2019

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

artículo científico publicado en 2019

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

artículo científico publicado en 2020

Host genetics of mycobacterial diseases in mice and men: forward genetic studies of BCG-osis and tuberculosis

artículo científico publicado en 2007

Host genetics of severe influenza: from mouse Mx1 to human IRF7

artículo científico publicado en 2016

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

artículo científico publicado en 2017

Human BCL10 Deficiency due to Homozygosity for a Rare Allele

scientific article published on 01 February 2020

Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors

artículo científico publicado en 2010

Human CRY1 variants associate with attention deficit/hyperactivity disorder

artículo científico publicado en 2020

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

artículo científico publicado en 2019

Human Genetics of Infectious Diseases

article

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

artículo científico publicado en 2015

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

artículo científico publicado en 2018

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

artículo científico publicado en 2020

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

scientific article published on 17 January 2020

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency

artículo científico publicado en 2017

Human Lentiviral Gene Therapy Restores the Cellular Phenotype of Autosomal Recessive Complete IFN-γR1 Deficiency

artículo científico publicado en 2020

Human Mannose-binding Lectin in Immunity: Friend, Foe, or Both?

artículo científico publicado en 2004

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections

artículo científico publicado en 2012

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

scientific article published on 05 December 2019

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy

artículo científico publicado en 2020

Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

scientific article published on 03 December 2020

Human TBK1 is required for early autophagy induction upon HSV1 infection

article

Human TBK1: A Gatekeeper of Neuroinflammation

artículo científico publicado en 2016

Human TET2 bridges cancer and immunity

scientific article published on 01 August 2020

Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses

artículo científico publicado en 2005

Human TLRs and IL-1Rs in host defense: natural insights from evolutionary, epidemiological, and clinical genetics

artículo científico publicado en 2011

Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis

artículo científico publicado en 2010

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

artículo científico publicado en 2015

Human Toll-like receptor-dependent induction of interferons in protective immunity to viruses

artículo científico publicado en 2007

Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire

artículo científico publicado en 2004

Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo

artículo científico publicado en 2006

Human genetic basis of interindividual variability in the course of infection

artículo científico publicado en 2015

Human genetics of infectious diseases: Fundamental insights from clinical studies

article

Human genetics of infectious diseases: Unique insights into immunological redundancy

artículo científico publicado en 2017

Human genetics of infectious diseases: a unified theory

artículo científico publicado en 2007

Human genetics of infectious diseases: between proof of principle and paradigm

scientific article published on September 2009

Human genetics of tuberculosis

artículo científico publicado en 2013

Human genetics of tuberculosis: a long and winding road

artículo científico publicado en 2014

Human hyper-IgE syndrome: singular or plural?

Human iPSC-derived trigeminal neurons lack constitutive TLR3-dependent immunity that protects cortical neurons from HSV-1 infection

article published in the Proceedings of the National Academy of Sciences of the United States of America

Human inborn errors of immunity to herpes viruses

scientific article published on 31 January 2020

Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism

scientific article published on 20 May 2019

Human inborn errors of immunity: An expanding universe

artículo científico publicado en 2020

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

artículo científico publicado en 2014

Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral

Human monogenic disorders that confer predisposition to specific infections.

artículo científico publicado en 2007

Human plasma cells express granzyme B.

artículo científico publicado en 2013

Human primary immunodeficiencies of type I interferons

artículo científico publicado en 2007

Human studies at JEM: Immunology and beyond

artículo científico publicado en 2016

IFN-gamma and IL-12 differentially regulate CC-chemokine secretion and CCR5 expression in human T lymphocytes

scientific article published on 01 October 2002

IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts

artículo científico publicado en 2008

IFN-gamma regulates Fas ligand expression in human CD4+ T lymphocytes and controls their anti-mycobacterial cytotoxic functions

artículo científico publicado en 2007

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis

artículo científico publicado en 2018

IGF1R is an entry receptor for respiratory syncytial virus

scientific article published on 03 June 2020

IL-12 and IFN-gamma in host defense against mycobacteria and salmonella in mice and men.

artículo científico publicado en 1999

IL-12 and IL-23 cytokines: from discovery to targeted therapies for immune-mediated inflammatory diseases.

artículo científico

IL-12 drives functional plasticity of human group 2 innate lymphoid cells

artículo científico publicado en 2016

IL-12 receptor β1 deficiency alters in vivo T follicular helper cell response in humans

artículo científico publicado en 2013

IL-12Rβ1 Deficiency and Disseminated Mycobacterium tilburgii Disease

IL-12Rβ1 defect presenting with massive intraabdominal lymphadenopathy due to Mycobacterium intracellulare: A case report.

artículo científico publicado en 2016

IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey

artículo científico publicado en 2011

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database

artículo científico publicado en 2013

IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation

artículo científico publicado en 2013

IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.

artículo científico publicado en 2013

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

artículo científico publicado en 2015

IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens

artículo científico publicado en 2014

IRAK-4 mutation (Q293X): rapid detection and characterization of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells

artículo científico publicado en 2006

IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans

artículo científico publicado en 2008

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation

artículo científico publicado en 2020

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

artículo científico publicado en 2017

IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease

artículo científico publicado en 2006

IRAK4 kinase activity is redundant for interleukin-1 (IL-1) receptor-associated kinase phosphorylation and IL-1 responsiveness

artículo científico publicado en 2004

IRF4 haploinsufficiency in a family with Whipple's disease.

artículo científico publicado en 2018

IRF8 mutations and human dendritic-cell immunodeficiency

artículo científico publicado en 2011

ISG15: leading a double life as a secreted molecule

artículo científico publicado en 2013

Identification of a major locus, TNF1, that controls BCG-triggered tumor necrosis factor production by leukocytes in an area hyperendemic for tuberculosis

artículo científico publicado en 2013

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing

artículo científico publicado en 2019

IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients

artículo científico publicado en 2012

Immigration in science

scientific article published on 01 November 2020

Immunity to infection in IL-17-deficient mice and humans

artículo científico publicado en 2012

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

artículo científico publicado en 2012

Immunologic aspects of patients with disseminated bacille Calmette-Guerin disease in north-west of Iran

artículo científico publicado en 2009

Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind

artículo científico publicado en 2015

Immunology in natura: clinical, epidemiological and evolutionary genetics of infectious diseases

artículo científico publicado en 2007

Immunology taught by human genetics

artículo científico

Immunology. Autoimmunity by haploinsufficiency

artículo científico publicado en 2014

Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease

scientific article published on 25 September 2018

Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells

artículo científico publicado en 2012

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency

artículo científico publicado en 2003

Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation

artículo científico publicado en 2001

Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency

artículo científico publicado en 1998

Importance of T cells, gamma interferon, and tumor necrosis factor in immune control of the rapid grower Mycobacterium abscessus in C57BL/6 mice

artículo científico publicado en 2007

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

artículo científico publicado en 2018

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

artículo científico

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features

artículo científico publicado en 2006

Inborn errors of anti-viral interferon immunity in humans

artículo científico publicado en 2011

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

artículo científico publicado en 2012

Inborn errors of human JAKs and STATs

artículo científico publicado en 2012

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

artículo científico publicado en 2012

Inborn errors of immunity to infection: the rule rather than the exception

artículo científico publicado en 2005

Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals

artículo científico publicado en 2017

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense

artículo científico publicado en 2008

Inborn errors of metabolism underlying primary immunodeficiencies

artículo científico

Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?

artículo científico publicado en 2010

Inborn errors of the development of human natural killer cells

artículo científico publicado en 2013

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Inborn errors underlying herpes simplex encephalitis: From TLR3 to IRF3.

artículo científico publicado en 2015

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons

article published in the Proceedings of the National Academy of Sciences of the United States of America

Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies

artículo científico publicado en 2010

Induction of MxA gene expression by influenza A virus requires type I or type III interferon signaling

artículo científico publicado en 2007

Infection disséminée idiopathoqieu par le BCG ou les mycobactéries atypiques

artículo científico publicado en 1997

Infection multifocale à Mycobacterium intracellulare: premier cas de déficit partiel dominant du récepteur de l'interféron gamma en milieu tropical français

artículo científico publicado en 2007

Infections Due to Various Atypical Mycobacteria in a Norwegian Multiplex Family with Dominant Interferon- Receptor Deficiency

artículo científico publicado en 2008

Infections caused by BCG and atypical mycobacteria in children: a new group of immune deficiencies

artículo científico publicado en 1999

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

artículo científico publicado en 2015

Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency

artículo científico publicado en 2011

Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.

artículo científico publicado en 2016

Inheritable defects in interleukin-12- and interferon-gamma-mediated immunity and the TH1/TH2 paradigm in man.

artículo científico publicado en 1999

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity

artículo científico publicado en 2014

Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections

scientific article published on 15 January 2020

Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults

scholarly article by Emilie Corvilain et al published August 2018 in Journal of Clinical Immunology

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection

artículo científico publicado en 2014

Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both

artículo científico publicado en 2015

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

artículo científico publicado en 2015

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

artículo científico publicado en 2017

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

artículo científico publicado en 2019

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report

artículo científico publicado en 2017

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds

artículo científico publicado en 2013

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

artículo científico publicado en 2015

Inherited IL-18BP deficiency in human fulminant viral hepatitis.

artículo científico publicado en 2019

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma

artículo científico publicado en 2019

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

artículo científico publicado en 2012

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

artículo científico publicado en 2021

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

artículo científico publicado en 2015

Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children.

artículo científico publicado en 2005

Inherited disorders of IFN-γ-, IFN-α/β-, and NF-κB-mediated immunity

Inherited disorders of IL-12- and IFNγ-mediated immunity: a molecular genetics update

article

Inherited disorders of NF-kappaB-mediated immunity in man.

artículo científico publicado en 2004

Inherited disorders of cytokines

artículo científico publicado en 2004

Inherited disorders of human Toll-like receptor signaling: immunological implications.

artículo científico publicado en 2005

Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection

artículo científico publicado en 2005

Inherited human IFNγ deficiency underlies mycobacterial disease

artículo científico publicado en 2020

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

scientific article published on 09 January 2017

Inherited human IRAK-4 deficiency: an update.

artículo científico publicado en 2007

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

artículo científico publicado en 2013

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

scientific article published on 17 December 2001

Inherited p40phox deficiency differs from classic chronic granulomatous disease

scientific article published on 06 August 2018

Interaction of Pattern Recognition Receptors with Mycobacterium Tuberculosis

artículo científico publicado en 2014

Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection

artículo científico publicado en 2010

Interferon- <b>γ</b> and infectious diseases: Lessons and prospects

artículo científico publicado en 2024

Interferon-gamma-dependent Immunity in Bacillus Calmette-Guérin Vaccine Osteitis Survivors

artículo científico publicado en 2016

Interferon-γ receptor deficiency mimicking Langerhans’ cell histiocytosis

Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans

artículo científico publicado en 2004

Interleukin 1/Toll-like receptor-induced autophosphorylation activates interleukin 1 receptor-associated kinase 4 and controls cytokine induction in a cell type-specific manner

artículo científico publicado en 2014

Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses

artículo científico publicado en 2004

Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis

artículo científico publicado en 2005

Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection

artículo científico publicado en 2003

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

artículo científico publicado en 2011

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

artículo científico publicado en 2017

Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations

article published in 2005

Introduction

Invasive pneumococcal disease in children can reveal a primary immunodeficiency

artículo científico publicado en 2014

Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases

artículo científico publicado en 2010

JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency

scientific article published on 01 January 2020

Kaposi Sarcoma of Childhood: Inborn or Acquired Immunodeficiency to Oncogenic HHV-8

artículo científico publicado en 2016

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

artículo científico publicado en 2017

Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome

article by Capucine Picard et al published 7 April 2006 in European Journal of Pediatrics

Kawasaki-like multisystem inflammatory syndrome in children during the covid-19 pandemic in Paris, France: prospective observational study

scientific article published on 03 June 2020

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

artículo científico publicado en 2019

LUBAC: A new function in immunity

artículo científico publicado en 2014

Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay

Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.

artículo científico publicado en 2018

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

artículo científico publicado en 2017

Lessons learned from the study of human inborn errors of innate immunity

scientific article published on 01 August 2018

Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories

artículo científico publicado en 2020

Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency

artículo científico publicado en 2018

Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency

artículo científico publicado en 2011

Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18.

artículo científico publicado en 2016

Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation

artículo científico publicado en 2020

Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity

artículo científico publicado en 2019

Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

artículo científico publicado en 2010

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

artículo científico publicado en 2018

Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options

artículo científico publicado en 1999

Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency

artículo científico publicado en 2009

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

artículo científico publicado en 2016

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications

artículo científico publicado en 2003

MYCOBACTERIUM FORTUITUM-CHELONAE COMPLEX INFECTION IN A CHILD WITH COMPLETE INTERLEUKIN-12 RECEPTOR BETA 1 DEFICIENCY

artículo científico publicado en 2001

Macrophages induce differentiation of plasma cells through CXCL10/IP-10

artículo científico publicado en 2012

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations

artículo científico publicado en 2015

Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients

artículo científico publicado en 2011

Mechanism of dysfunction of human variants of the IRAK4 kinase and a role for its kinase activity in interleukin-1 receptor signaling

artículo científico publicado en 2018

Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

artículo científico publicado en 2017

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients

scientific article published on 30 June 2020

Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.

artículo científico publicado en 2018

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

artículo científico publicado en 2016

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

artículo científico publicado en 2016

Mendelian predisposition to herpes simplex encephalitis

artículo científico publicado en 2013

Mendelian susceptibility to mycobacterial disease in egyptian children

artículo científico publicado en 2012

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

scientific article published on 25 October 2018

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

artículo científico publicado en 2014

Mendelian susceptibility to mycobacterial infection in man

scientific article published on 01 August 1998

Mendelian traits that confer predisposition or resistance to specific infections in humans

artículo científico publicado en 2006

Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression

artículo científico publicado en 2017

Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.

artículo científico publicado en 2018

Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.

artículo científico publicado en 2012

Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease

artículo científico publicado en 2019

Monoclonal antibody-mediated neutralization of SARS-CoV-2 in an IRF9-deficient child

artículo científico publicado en 2021

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

artículo científico publicado en 2015

More than Meets the Eye: Monogenic Autoimmunity Strikes Again

artículo científico publicado en 2015

Most residues on the floor of the antigen binding site of the class I MHC molecule H-2Kd influence peptide presentation

artículo científico publicado en 1992

Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications

artículo científico publicado en 2011

Multibatch Cytometry Data Integration for Optimal Immunophenotyping

scientific article published on 23 November 2020

Multicentric Castleman disease in an HHV8-infected child born to consanguineous parents with systematic review

artículo científico publicado en 2011

Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect

artículo científico publicado en 2012

Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency.

artículo científico publicado en 2010

Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36 receptor antagonist and is associated with DITRA syndrome.

artículo científico publicado en 2017

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

artículo científico publicado en 2011

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

artículo científico publicado en 2008

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

artículo científico publicado en 2011

Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency

artículo científico publicado en 2019

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

artículo científico publicado en 2012

Mycobacterial disease in a child with surface-expressed non-functional interleukin-12Rbeta1 chains.

artículo científico publicado en 2007

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

artículo científico publicado en 2016

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

artículo científico publicado en 2014

Mycobacterium szulgai Chronic Multifocal Osteomyelitis in an Adolescent with Inherited STAT1 Deficiency

artículo científico publicado en 2013

Mycobacterium szulgai chronic multifocal osteomyelitis in an adolescent with inherited STAT1 deficiency

artículo científico publicado en 2013

Méningite à Bacillus cereus chez un nourrisson au décours d'un syndrome de Reye

artículo científico publicado en 1998

NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth

artículo científico publicado en 2005

NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

artículo científico publicado en 2011

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.

artículo científico publicado en 2013

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

artículo científico publicado en 2013

New frontiers in immunology. Workshop on the road ahead: future directions in fundamental and clinical immunology

artículo científico publicado en 2005

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

artículo científico publicado en 2011

Nonpathogenic Common Variants of IFNGR1 and IFNGR2 in Association with Total Serum IgE Levels

article

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

artículo científico publicado en 2006

Novel human immunodeficiencies reveal the essential role of type-I cytokines in immunity to intracellular bacteria

artículo científico publicado en 1998

Novel primary immunodeficiencies

artículo científico publicado en 2005

Novel primary immunodeficiencies relevant to internal medicine: novel phenotypes

artículo científico publicado en 2009

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

artículo científico publicado en 2008

Novel primary immunodeficiency candidate genes predicted by the human gene connectome

artículo científico publicado en 2015

Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

artículo científico publicado en 2004

Occurrence of Aortic Aneurysms in 5 Cases of Wiskott-Aldrich Syndrome

scientific article published on 24 January 2011

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

artículo científico publicado en 2014

Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency

artículo científico publicado en 2010

Optimal conditions for directly sequencing double-stranded PCR products with sequenase

artículo científico publicado en 1990

Orf Infection in a Patient with Stat1 Gain-of-Function

artículo científico publicado en 2014

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

artículo científico publicado en 2002

Outbreak of Kawasaki disease in children during COVID-19 pandemic: a prospective observational study in Paris, France

artículo científico publicado en 2020

PAX1 is essential for development and function of the human thymus

artículo científico publicado en 2020

Paracoccidioides brasiliensis Disseminated Disease in a Patient with Inherited Deficiency in the 1 Subunit of the Interleukin (IL)-12/IL-23 Receptor

artículo científico publicado en 2005

Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity

artículo científico publicado en 2017

Parsing the Interferon Transcriptional Network and Its Disease Associations

artículo científico publicado en 2016

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

artículo científico publicado en 2013

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

artículo científico publicado en 2012

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

artículo científico publicado en 2003

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

article by Despina Moshous et al published 1 February 2003 in Journal of Clinical Investigation

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

artículo científico publicado en 2011

Past, Present, and Future of The Journal of Clinical Immunology, the International Journal of Inborn Errors of Immunity

artículo científico publicado en 2020

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency

article by Carolina Prando et al published March 2010 in American Journal of Medical Genetics

Pathogenesis of infections in HIV-infected individuals: insights from primary immunodeficiencies

artículo científico publicado en 2017

Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway

scientific article published on 19 February 2020

Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency

artículo científico publicado en 2014

Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection

artículo científico publicado en 2015

Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review

artículo científico publicado en 2014

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

scholarly article by Peng Zhang et al published 15 December 2018 in Bioinformatics

Posaconazole treatment of extensive skin and nail dermatophytosis due to autosomal recessive deficiency of CARD9.

artículo científico publicado en 2015

Pott's disease in Moroccan children: clinical features and investigation of the interleukin-12/interferon-γ pathway

artículo científico publicado en 2015

Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco

scientific article published on 15 August 2019

Primary Cytomegalovirus Infection, Atypical Kawasaki Disease, and Coronary Aneurysms in 2 Infants

artículo científico publicado en 2005

Primary Immune Deficiencies Presenting in Adults: Seven Years of Experience from Iran

article

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

artículo científico publicado en 2015

Primary immunodeficiencies associated with pneumococcal disease

artículo científico publicado en 2003

Primary immunodeficiencies may reveal potential infectious diseases associated with immune-targeting mAb treatments

scientific article published on 12 October 2010

Primary immunodeficiencies of protective immunity to primary infections

artículo científico publicado en 2010

Primary immunodeficiencies underlying fungal infections

artículo científico publicado en 2013

Primary immunodeficiencies: 2009 update

artículo científico publicado en 2009

Primary immunodeficiencies: a field in its infancy

artículo científico publicado en 2007

Primary immunodeficiencies: a rapidly evolving story

artículo científico publicado en 2013

Primary immunodeficiencies: increasing market share

article

Primary immunodeficiency diseases worldwide: more common than generally thought

artículo científico publicado en 2012

Primary immunodeficiency diseases: an update

artículo científico publicado en 2004

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

artículo científico publicado en 2007

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005

artículo científico publicado en 2006

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

artículo científico publicado en 2014

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

artículo científico publicado en 2011

Primary immunodeficiency diseases: the J Project

scientific article published in The Lancet

Propionibacterium acnes Chest Infections in Patients with Chronic Granulomatous Disease: Case Reports

scientific article published in 2002

Proteomics in immunity and herpes simplex encephalitis

artículo científico publicado en 2013

Prédisposition génétique et infections de l'enfant

artículo científico publicado en 2006

Publisher Correction: IGF1R is an entry receptor for respiratory syncytial virus

scientific article published on 19 June 2020

Pulmonary manifestations of chronic granulomatous disease

artículo científico publicado en 2013

Purpura fulminans méningococcique : rencontre malheureuse de polymorphismes génétiques ?

artículo científico publicado en 2001

Purulent pericarditis and colonic infiltrating to Salmonella enteritidis complicated by acute intussusception in a case of IL-12Rβ1 deficiency

artículo científico publicado en 2014

Pyogenic bacterial infections in humans with IRAK-4 deficiency

artículo científico publicado en 2003

Pyogenic bacterial infections in humans with MyD88 deficiency

artículo científico publicado en 2008

Real-time measurement of antigenic peptide binding to empty and preloaded single-chain major histocompatibility complex class I molecules

scholarly article by David M. Ojcius et al published May 1993 in European Journal of Immunology

Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes

artículo científico publicado en 2022

Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency

scientific article published on 17 May 2019

Recurrent Salmonellosis in a Child with Complete IL-12Rβ1 Deficiency

scholarly article published 4 June 2014

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.

artículo científico publicado en 2017

Recurrent non-typhoidal salmonella bacteremia in a patient with interleukin -12p40 deficiency.

artículo científico publicado en 2004

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

artículo científico publicado en 2017

Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6.

artículo científico publicado en 2008

Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy

artículo científico publicado en 2010

Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy

artículo científico publicado en 2010

Requirement for both IL-12 and IFN-gamma signaling pathways in optimal IFN-gamma production by human T cells

artículo científico publicado en 2002

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

artículo científico publicado en 2018

Retroviral-mediated gene transfer restores IL-12 and IL-23 signaling pathways in T cells from IL-12 receptor beta1-deficient patients

artículo científico publicado en 2004

Revisiting Crohn's disease as a primary immunodeficiency of macrophages

artículo científico publicado en 2009

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

artículo científico publicado en 2010

Revisiting human primary immunodeficiencies

artículo científico publicado en 2008

Rhinoscleroma: a French national retrospective study of epidemiological and clinical features

artículo científico publicado en 2008

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

artículo científico publicado en 2013

Ruxolitinib Response in an Infant with Very-Early-Onset Inflammatory Bowel Disease and Gain-of-Function STAT1 Mutation

artículo científico publicado en 2020

STAT1 Gain-of-Function and Dominant Negative STAT3 Mutations Impair IL-17 and IL-22 Immunity Associated with CMC.

artículo científico publicado en 2017

STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function

artículo científico publicado en 2015

STING-Associated Vasculopathy with Onset in Infancy — A New Interferonopathy

scientific article published on 16 July 2014

Safety of hematopoietic stem cell transplantation from hepatitis B core antibodies-positive donors with low/undetectable viremia in HBV-naïve children.

artículo científico publicado en 2013

Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity

artículo científico publicado en 2007

Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria

artículo científico publicado en 2017

Septicemia without sepsis: inherited disorders of nuclear factor-kappa B-mediated inflammation

artículo científico publicado en 2005

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data

artículo científico publicado en 2019

Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl

scholarly article by Ana Esteve-Sole et al published 23 July 2018 in Journal of Clinical Immunology

Severe COVID-19 in the young and healthy: monogenic inborn errors of immunity?

scientific article published on 18 June 2020

Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency.

artículo científico publicado en 2017

Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

artículo científico publicado en 2015

Severe aplastic anemia of neonatal onset: a single-center retrospective study of six children

artículo científico publicado en 1998

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.

artículo científico publicado en 2006

Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency

artículo científico publicado en 2004

Severe infectious diseases of childhood as monogenic inborn errors of immunity

artículo científico publicado en 2015

Severe influenza pneumonitis in children with inherited TLR3 deficiency

scientific article published on 19 June 2019

Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients

artículo científico publicado en 1998

Shigella sonnei Meningitis Due to Interleukin-1 Receptor--Associated Kinase--4 Deficiency: First Association with a Primary Immune Deficiency

artículo científico publicado en 2005

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.

scientific article published on 04 July 2013

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis

artículo científico publicado en 2013

Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.

artículo científico publicado en 2008

Single-cell PCR analysis of TCR repertoires selected by antigen in vivo: a high magnitude CD8 response is comprised of very few clones.

artículo científico publicado en 1996

Staphylococcal Pericarditis, and Liver and Paratracheal Abscesses as Presentations in Two New Cases of Interleukin-1 Receptor Associated Kinase 4 Deficiency

artículo científico publicado en 2008

Stem cell transplantation for immunodeficiency

artículo científico publicado en 1998

Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency

artículo científico publicado en 2009

Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-γ receptor 1 deficiency

artículo científico publicado en 2006

Susceptibilité génétique et infection chez l’enfant

scientific article published on 01 June 2009

Systemic Human ILC Precursors Provide a Substrate for Tissue ILC Differentiation.

artículo científico publicado en 2017

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

scientific article published on 01 May 2020

T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells

artículo científico publicado en 2006

T-cell Responses to HSV-1 in Persons Who Have Survived Childhood Herpes Simplex Encephalitis

artículo científico publicado en 2017

T-cell defects in patients with germline mutations account for combined immunodeficiency

artículo científico publicado en 2018

TLR-mediated inflammatory responses to Streptococcus pneumoniae are highly dependent on surface expression of bacterial lipoproteins

artículo científico publicado en 2014

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk

artículo científico publicado en 2014

TLR3 deficiency in patients with herpes simplex encephalitis

artículo científico publicado en 2007

TLR3 immunity to infection in mice and humans

artículo científico publicado en 2013

TLR8-mediated NF-κB and JNK Activation Are TAK1-independent and MEKK3-dependent

scientific article published in Journal of Biological Chemistry

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

artículo científico publicado en 2011

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

artículo científico publicado en 2015

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

artículo científico publicado en 2017

The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

artículo científico publicado en 2020

The Journal of Clinical Immunology: an international journal for primary immunodeficiencies and related human immunologic diseases.

artículo científico publicado en 2013

The MHC class II-restricted T cell response of C57BL/6 mice to human C-reactive protein: homology to self and the selection of T cell epitopes and T cell receptors

artículo científico publicado en 1997

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

artículo científico publicado en 2006

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

artículo científico publicado en 2002

The Role of Human IL-17 Immunity in Fungal Disease

The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.

artículo científico publicado en 2011

The differential regulation of human ACT1 isoforms by Hsp90 in IL-17 signaling

artículo científico publicado en 2014

The diversity of antigen-specific TCR repertoires reflects the relative complexity of epitopes recognized

artículo científico publicado en 1997

The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases

artículo científico publicado en 2008

The genetic structure of the Turkish population reveals high levels of variation and admixture

artículo científico publicado en 2021

The genetic theory of infectious diseases: a brief history and selected illustrations

artículo científico publicado en 2013

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

scientific article published on 01 August 2018

The human gene connectome as a map of short cuts for morbid allele discovery

artículo científico publicado en 2013

The human gene damage index as a gene-level approach to prioritizing exome variants

artículo científico publicado en 2015

The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity?

artículo científico publicado en 2020

The human model: a genetic dissection of immunity to infection in natural conditions

artículo científico publicado en 2004

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

artículo científico publicado en 2024

The interaction of antigenic peptides with the H-2Kd MHC class I molecule

artículo científico publicado en 1993

The kinase activity of IL-1 receptor-associated kinase 4 is required for interleukin-1 receptor/toll-like receptor-induced TAK1-dependent NFkappaB activation

artículo científico publicado en 2008

The mutation significance cutoff: gene-level thresholds for variant predictions

artículo científico publicado en 2016

The nature of human IL-6

scientific article published on 24 June 2019

The protein tyrosine kinase p60c-Src is not implicated in the pathogenesis of the human autosomal recessive form of osteopetrosis: a study of 13 children.

artículo científico publicado en 1998

The proteome of Toll-like receptor 3-stimulated human immortalized fibroblasts: implications for susceptibility to herpes simplex virus encephalitis

artículo científico publicado en 2013

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

artículo científico publicado en 2022

The role of IL-12, IL-23 and IFN-gamma in immunity to viruses

artículo científico publicado en 2004

The role of interleukin-12 in human infectious diseases: only a faint signature

artículo científico publicado en 2003

The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88

artículo científico publicado en 2010

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

artículo científico publicado en 2020

Transduction of Herpesvirus saimiri-Transformed T Cells with Exogenous Genes of Interest.

artículo científico publicado en 2016

Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency

artículo científico publicado en 2020

Treatment of disseminated mycobacterial infection with high-dose IFN-γ in a patient with IL-12Rβ1 deficiency

artículo científico publicado en 2010

Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation

article

Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities

artículo científico publicado en 2014

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

scientific article published on 01 December 2018

Tuberculosis in children and adults: two distinct genetic diseases

artículo científico publicado en 2005

Tuberculosis: a new look at an old disease

scholarly article by Nima Rezaei et al published March 2011 in Expert Review of Clinical Immunology

Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis

artículo científico publicado en 2009

Type I interferon autoantibodies are associated with systemic immune alterations in patients with COVID-19

artículo científico publicado en 2021

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

artículo científico publicado en 2016

Utility of the QuantiFERON®-TB Gold In-Tube assay for the diagnosis of tuberculosis in Moroccan children

artículo científico publicado en 2016

Value of open lung biopsy in immunocompromised children

Variable outcome of experimental interferon-? therapy of disseminated Bacillus Calmette-Guerin infection in two unrelated interleukin-12R?1-deficient Slovakian children

article

Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant

artículo científico publicado en 2013

Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins

article

Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency.

artículo científico publicado en 2009

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies

artículo científico publicado en 2016

WITHDRAWN: Genetic infectious susceptibility and TLR defects in human

retracted paper

Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Classic Kaposi Sarcoma

artículo científico publicado en 2014

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

artículo científico publicado en 2016

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

artículo científico publicado en 2010

Whole-exome-sequencing-based discovery of human FADD deficiency

artículo científico publicado en 2010

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

artículo científico publicado en 2015

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

artículo científico publicado en 2001

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

artículo científico publicado en 2006

Yellow fever vaccine: worthy friend or stealthy foe?

artículo científico publicado en 2016

ZNF341 controls STAT3 expression and thereby immunocompetence

scientific article published on 01 June 2018

[Fungal infections and congenital immune deficiencies].

artículo científico publicado en 2011

[Pathological consequences of excess of interferon in vivo]

scientific article published on 01 March 2019

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