Lista de obras - Emmanuelle Jouanguy - Dominio Público Uruguay

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

scientific article published on 29 November 2018

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

artículo científico publicado en 1998

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

artículo científico publicado en 2015

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

artículo científico publicado en 1999

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

artículo científico publicado en 2022

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 immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

artículo científico publicado en 2005

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

artículo científico publicado en 2006

A partial form of recessive STAT1 deficiency in humans

artículo científico publicado en 2009

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 virus finds its natural killer

artículo científico publicado en 2001

Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression

artículo científico publicado en 1997

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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

scientific article published on 17 July 2019

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

artículo científico publicado en 2010

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

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

artículo científico publicado en 2019

Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection

artículo científico publicado en 1997

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

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

artículo científico publicado en 2011

Dominant negative CARD11 mutations: Beyond atopy

artículo científico publicado en 2019

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

artículo científico publicado en 2016

EVER2 deficiency is associated with mild T-cell abnormalities

artículo científico publicado en 2012

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

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

artículo científico publicado en 2015

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 Disseminated Mycobacterium smegmatis Infection in a Child with Inherited Interferon Receptor Deficiency

artículo científico publicado en 1997

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

artículo científico publicado en 2011

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

artículo científico publicado en 1998

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity

artículo científico publicado en 2022

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 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

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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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 and immunological determinants of critical COVID-19 pneumonia

artículo científico publicado en 2022

Human genetic basis of fulminant viral hepatitis

scientific article published on 13 April 2020

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 interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion

artículo científico publicado en 2000

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

artículo científico publicado en 2014

Human primary immunodeficiencies of type I interferons

artículo científico publicado en 2007

IAO03 Genetic susceptibility to herpes encephalitis in children

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

scientific article published on 01 October 2002

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

artículo científico publicado en 1999

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

artículo científico publicado en 2008

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

artículo científico publicado en 2019

Idiopathic disseminated bacillus Calmette-Guérin infection: a French national retrospective study

artículo científico publicado en 1996

Immunological conditions of children with BCG disseminated infection

artículo científico publicado en 1995

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 immunity in human interleukin-12 receptor deficiency

artículo científico publicado en 1998

In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma

artículo científico publicado en 2000

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 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 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

Infections in IFNGR-1-deficient children

artículo científico publicado en 1997

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

artículo científico publicado en 1999

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-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 human OX40 deficiency underlying classic Kaposi sarcoma of childhood

artículo científico publicado en 2013

Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection

artículo científico publicado en 1998

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

artículo científico publicado en 2010

Interferon-gamma receptor deficiency: relationship between genotype, environment, and phenotype (Review)

article

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

artículo científico publicado en 1996

Interferon-γ receptor deficiency mimicking Langerhans’ cell histiocytosis

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

LPS-induced immune response in Drosophila

artículo científico publicado en 2000

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

Mendelian susceptibility to mycobacterial infection in man

scientific article published on 01 August 1998

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

artículo científico publicado en 2021

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

artículo científico publicado en 2011

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

artículo científico publicado en 2021

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 primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

artículo científico publicado en 2008

Osteopontin expression correlates with clinical outcome in patients with mycobacterial infection.

artículo científico publicado en 2000

Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

article

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

artículo científico publicado en 2012

Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis

artículo científico publicado en 1997

Pherokine-2 and -3.

artículo científico publicado en 2003

Primary immunodeficiencies of protective immunity to primary infections

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

RecurrentMycobacterium aviumOsteomyelitis Associated With a Novel Dominant Interferon Gamma Receptor Mutation

article

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

artículo científico publicado en 2002

SARS-CoV-2 induces human plasmacytoid predendritic cell diversification via UNC93B and IRAK4

artículo científico publicado en 2021

Surface expression of the IFN-gamma R2 chain is regulated by intracellular trafficking in human T lymphocytes

scientific article published on 01 January 2000

TIM3+ TRBV11-2 T cells and IFNγ signature in patrolling monocytes and CD16+ NK cells delineate MIS-C

artículo científico publicado en 2022

TLR3 controls constitutive IFN-β antiviral immunity in human fibroblasts and cortical neurons

artículo científico publicado en 2021

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

The Jak-STAT signaling pathway is required but not sufficient for the antiviral response of drosophila

artículo científico publicado en 2005

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

scientific article published on 01 August 2018

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

artículo científico publicado en 2024

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

artículo científico publicado en 2022

Toll-related receptors and the control of antimicrobial peptide expression in Drosophila

artículo científico publicado en 2000

WITHDRAWN: Genetic infectious susceptibility and TLR defects in human

retracted paper

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

artículo científico publicado en 2010

Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions

artículo científico publicado en 2022

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

scholarly article by Takaki Asano published in 2021

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

artículo científico publicado en 2006

[Primary immunodeficiency secondary to ZAP-70 deficiency]

artículo científico publicado en 2001

Lista de obras de Emmanuelle Jouanguy

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

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

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

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

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

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

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

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

A partial form of recessive STAT1 deficiency in humans

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

A virus finds its natural killer

Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression

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

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

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

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

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

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

Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection

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

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

Dominant negative CARD11 mutations: Beyond atopy

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

EVER2 deficiency is associated with mild T-cell abnormalities

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

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

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

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

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency

Fatal Disseminated Mycobacterium smegmatis Infection in a Child with Inherited Interferon Receptor Deficiency

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

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

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

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

HPV-Related Skin Phenotypes in Patients with Inborn Errors of Immunity

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

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

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

Herpes simplex virus encephalitis in human UNC-93B deficiency

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

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

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

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

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

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

Human genetic and immunological determinants of critical COVID-19 pneumonia

Human genetic basis of fulminant viral hepatitis

Human inborn errors of immunity to herpes viruses

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

Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion

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

Human primary immunodeficiencies of type I interferons

IAO03 Genetic susceptibility to herpes encephalitis in children

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

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

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

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

Idiopathic disseminated bacillus Calmette-Guérin infection: a French national retrospective study

Immunological conditions of children with BCG disseminated infection

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

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

Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency

In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma

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

Inborn errors of anti-viral interferon immunity in humans

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

Inborn errors of the development of human natural killer cells

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

Infections in IFNGR-1-deficient children

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

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

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

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

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

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection

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

Interferon-gamma receptor deficiency: relationship between genotype, environment, and phenotype (Review)