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Lista de obras de Laurent Abel

A Major Susceptibility Locus on Chromosome 22q12 Plays a Critical Role in the Control of Kala-Azar ⬇️

artículo científico publicado el 13 de octubre de 2003

A Missense LRRK2 Variant Is a Risk Factor for Excessive Inflammatory Responses in Leprosy

artículo científico publicado en 2016

A Recessive Major Gene Controls the Mitsuda Reaction in a Region Endemic for Leprosy

article

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

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

scientific article published on 25 July 2019

A functional promoter variant in IL12B predisposes to cerebral malaria

artículo científico publicado en 2008

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

artículo científico publicado en 1993

A genome wide association study identifies a lncRna as risk factor for pathological inflammatory responses in leprosy.

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

artículo científico publicado en 2022

A major gene controls leprosy susceptibility in a hyperendemic isolated population from north of Brazil

artículo científico publicado en 2010

A major gene effect controls resistance to caries

artículo científico publicado en 2011

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

artículo científico publicado en 2012

A major susceptibility locus for HTLV-1 infection in childhood maps to chromosome 6q27.

artículo científico publicado en 2006

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 new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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 human STAT1 deficiency impairing early but not late responses to interferons

artículo científico publicado en 2010

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 patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome

artículo científico publicado en 2012

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

artículo científico publicado en 2008

A time-dependent logistic hazard function for modeling variable age of onset in analysis of familial diseases

artículo científico publicado en 1990

Absence of linkage between MHC and a gene involved in susceptibility to human schistosomiasis

artículo científico publicado en 1998

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

artículo científico publicado en 2011

Age Is an Important Risk Factor for Onset and Sequelae of Reversal Reactions in Vietnamese Patients with Leprosy

scientific article published in 2007

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

Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis disease

artículo científico publicado en 2005

Amodiaquine-induced immune agranulocytosis

artículo científico publicado en 1989

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

artículo científico publicado en 2013

An Extensive Comparison of Quantitative Trait Loci Mapping Methods

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

Analysis of IL28B variants in an Egyptian population defines the 20 kilobases minimal region involved in spontaneous clearance of hepatitis C virus

artículo científico publicado en 2012

Apheresis in the management of loiasis with high microfilariaemia and renal disease

artículo científico publicado en 1986

Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco

artículo científico publicado en 2004

Association of TNFSF8 regulatory variants with excessive inflammatory responses but not leprosy per se.

artículo científico publicado en 2014

Association of killer cell immunoglobulin-like receptor genes with Hodgkin's lymphoma in a familial study

artículo científico publicado en 2007

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

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

BRIP1 coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV- or HBV-related liver disease

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

scientific article published on 17 July 2019

Causal analysis of H1N1pdm09 influenza infection risk in a household cohort.

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Chromosome 6q25 is linked to susceptibility to leprosy in a Vietnamese population

artículo científico publicado en 2003

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 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

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant

artículo científico publicado en 2009

Clinical epidemiology of laboratory-confirmed Buruli ulcer in Benin: a cohort study

artículo científico publicado en 2014

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

Combined linkage and association studies show that HLA class II variants control levels of antibodies against Epstein-Barr virus antigens

artículo científico publicado en 2014

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

Comparative efficacy of cefotiam, cefmenoxime, and ceftriaxone in experimental endocarditis and correlation with pharmacokinetics and in vitro efficacy

artículo científico publicado en 1987

Complex segregation analysis of familial diseases with variable age of onset: comparison of different methods by a simulation study.

artículo científico publicado en 1995

Complex segregation analysis of leprosy in Southern Vietnam

article

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

artículo científico publicado en 2020

Deep dermatophytosis and inherited CARD9 deficiency

artículo científico publicado en 2013

Deep resequencing identifies candidate functional genes in leprosy GWAS loci

artículo científico publicado en 2021

Detection of a major gene predisposing to human T lymphotropic virus type I infection in children among an endemic population of African origin

artículo científico publicado en 2000

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

Dissection of familial correlations in hepatitis C virus (HCV) seroprevalence suggests intrafamilial viral transmission and genetic predisposition to infection

artículo científico publicado en 2008

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

artículo científico publicado en 2020

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

Effect of ignoring genotype-environment interaction on segregation analysis of quantitative traits.

artículo científico publicado en 1993

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

scholarly article published in Journal of Clinical Immunology

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

artículo científico publicado en 2015

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

artículo científico publicado en 2004

Evaluation of a Model for Efficient Screening of Tuberculosis Contact Subjects

article

Evaluation of approaches to identify associated SNPs that explain the linkage evidence in nuclear families with affected siblings

artículo científico publicado en 2009

Evidence for a dominant major gene conferring predisposition to hepatitis C virus infection in endemic conditions

artículo científico publicado en 2009

Evidence for a major gene controlling susceptibility to tegumentary leishmaniasis in a recently exposed Bolivian population

artículo científico publicado en 1997

Evidence for a recessive major gene predisposing to human herpesvirus 8 (HHV-8) infection in a population in which HHV-8 is endemic.

artículo científico publicado en 2003

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

artículo científico publicado en 2009

Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles

artículo científico publicado en 2006

Exome and genome sequencing for inborn errors of immunity

artículo científico publicado en 2016

Factors associated with post-seasonal serological titer and risk factors for infection with the pandemic A/H1N1 virus in the French general population

artículo científico publicado en 2013

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency

artículo científico publicado en 2020

Ferritin H gene polymorphism in idiopathic hemochromatosis

article

Forward genetics of infectious diseases: immunological impact

article

From infectious diseases to primary immunodeficiencies

artículo científico publicado en 2008

Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33

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

artículo científico publicado en 2011

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

Gene set signature of reversal reaction type I in leprosy patients

artículo científico publicado en 2013

Genetic and functional analysis of common MRC1 exon 7 polymorphisms in leprosy susceptibility

artículo científico publicado en 2010

Genetic control of visceral leishmaniasis in a Sudanese population: candidate gene testing indicates a linkage to the NRAMP1 region.

artículo científico publicado en 2003

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 epidemiology of host predisposition microfilaraemia in human loiasis

artículo científico publicado en 1999

Genetic factors and age are the strongest predictors of humoral immune responses to common pathogens and vaccines

article

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

artículo científico publicado en 2011

Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33

Genetic predisposition to herpetic meningo-encephalitis in children

artículo científico publicado en 2010

Genetic predisposition to leprosy: A major gene reveals novel pathways of immunity to Mycobacterium leprae

artículo científico publicado en 2006

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

Genomewide Linkage Analysis of the Granulomatous Mitsuda Reaction Implicates Chromosomal Regions 2q35 and 17q21

article

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

artículo científico publicado en 2016

Genotype combinations of two IL4 polymorphisms influencing IL-4 plasma levels are associated with different risks of severe malaria in the Malian population

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Granulomatous reaction to intradermal injection of lepromin (Mitsuda reaction) is linked to the human NRAMP1 gene in Vietnamese leprosy sibships.

artículo científico publicado en 2000

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

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

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

artículo científico publicado en 2012

High heritability of antimycobacterial immunity in an area of hyperendemicity for tuberculosis disease

artículo científico publicado en 2010

High occurence of DRB1 11 in chronic lymphocytic leukaemia families

artículo científico publicado en 2002

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

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

artículo científico publicado en 2016

How can maximum likelihood methods reveal candidate gene effects on a quantitative trait?

article

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

artículo científico publicado en 2017

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

scientific article published on 03 December 2020

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 adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

artículo científico publicado en 2009

Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years

artículo científico publicado en 2021

Human genetic and immunological determinants of critical COVID-19 pneumonia

artículo científico publicado en 2022

Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccines

article

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 herpesvirus 8 transmission from mother to child and between siblings in an endemic population

artículo científico publicado en 2000

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

artículo científico publicado en 2014

Human leukocyte antigen class I region single-nucleotide polymorphisms are associated with leprosy susceptibility in Vietnam and India

artículo científico publicado en 2011

Human monogenic disorders that confer predisposition to specific infections.

artículo científico publicado en 2007

Human primary immunodeficiencies of type I interferons

artículo científico publicado en 2007

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

artículo científico publicado en 2011

IL28B alleles associated with poor hepatitis C virus (HCV) clearance protect against inflammation and fibrosis in patients infected with non-1 HCV genotypes

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

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

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

artículo científico publicado en 2007

Immunology taught by human genetics

artículo científico

Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study

artículo científico publicado en 2015

Impact of common risk factors of fibrosis progression in chronic hepatitis C.

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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 human IL-17 immunity underlie chronic mucocutaneous candidiasis

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

artículo científico publicado en 2010

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

scientific article published on 24 September 2020

Inclusion of unaffected sibs increases power in model-free linkage analysis of a behavioral trait

artículo científico publicado en 2005

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

Incorporation of covariates in multipoint model-free linkage analysis of binary traits: how important are unaffecteds?

artículo científico publicado en 2001

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

artículo científico publicado en 2015

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-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 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 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 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

Integrative study of pandemic A/H1N1 influenza infections: design and methods of the CoPanFlu-France cohort

artículo científico publicado en 2012

Interest of tumor necrosis factor-alpha -308 G/A and interleukin-10 -592 C/A polymorphisms in human African trypanosomiasis

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

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

Lack of antibody to HTLV-I and HIV in patients with multiple sclerosis from France and French West Indies

artículo científico publicado en 1986

Leprosy and BCG in southern Vietnam

artículo científico publicado en 1990

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

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

Linkage analysis of quantitative trait loci: sib pairs or sibships?

artículo científico publicado en 2000

Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11

artículo científico publicado en 1988

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

artículo científico publicado en 1994

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

artículo científico publicado en 2003

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

Malaria in humans: Plasmodium falciparum blood infection levels are linked to chromosome 5q31-q33

artículo científico publicado en 1998

Maximum-likelihood expression of the transmission/disequilibrium test and power considerations

artículo científico publicado en 1998

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

artículo científico publicado en 2018

Mendelian predisposition to herpes simplex encephalitis

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

Merkel cell polyomavirus infection occurs during early childhood and is transmitted between siblings

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Modeling the age-of-onset function in segregation analysis: a causal scheme for leprosy

artículo científico publicado en 1989

Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect

artículo científico publicado en 2012

Multipoint development of the weighted pairwise correlation (WPC) linkage method for pedigrees of arbitrary size and application to the analysis of breast cancer and alcoholism familial data

artículo científico publicado en 2001

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

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

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

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

Pauci- and Multibacillary Leprosy: Two Distinct, Genetically Neglected Diseases

artículo científico publicado en 2016

Pharmacokinetic interations between NSAIDs (indomethacin or sulindac) and H2-receptor antagonists (cimetidine or ranitidine) in human volunteers

artículo científico publicado en 1988

Plasma apolipoprotein H limits HCV replication and associates with response to NS3 protease inhibitors-based therapy

artículo científico publicado en 2015

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

Positive correlation between Epstein-Barr virus viral load and anti-viral capsid immunoglobulin G titers determined for Hodgkin's lymphoma patients and their relatives

artículo científico publicado en 2006

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 immunodeficiencies of protective immunity to primary infections

artículo científico publicado en 2010

Primary immunodeficiencies: a field in its infancy

artículo científico publicado en 2007

Primary immunodeficiency diseases worldwide: more common than generally thought

artículo científico publicado en 2012

Pyogenic bacterial infections in humans with MyD88 deficiency

artículo científico publicado en 2008

Quantifying genomic imprinting in the presence of linkage

artículo científico publicado en 2006

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

artículo científico publicado en 2017

Refined association of melanoma differentiation-associated gene 5 variants with spontaneous hepatitis C virus clearance in Egypt

artículo científico publicado en 2015

Removing phenotypic distribution assumptions from tests of linkage disequilibrium for quantitative traits

artículo científico publicado en 2003

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

artículo científico publicado en 2018

Resistance to Schistosoma mansoni in humans: influence of the IgE/IgG4 balance and IgG2 in immunity to reinfection after chemotherapy.

artículo científico publicado en 1993

Respective roles of serological status and blood specific antihuman herpesvirus 8 antibody levels in human herpesvirus 8 intrafamilial transmission in a highly endemic area.

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

Robustness and power of the maximum-likelihood-binomial and maximum-likelihood-score methods, in multipoint linkage analysis of affected-sibship data

artículo científico publicado en 1998

Robustness of the unified model to shared environmental effects in the analysis of dichotomous traits

artículo científico publicado en 1989

Segregation of HLA/TNF region is linked to leprosy clinical spectrum in families displaying mixed leprosy subtypes

article

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

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 Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

artículo científico publicado en 2015

Severe hepatic fibrosis in Schistosoma mansoni infection is controlled by a major locus that is closely linked to the interferon-gamma receptor gene.

artículo científico publicado en 1999

Severe influenza pneumonitis in children with inherited TLR3 deficiency

scientific article published on 19 June 2019

Skin-specific antibodies neutralizing mycolactone toxin during the spontaneous healing of Mycobacterium ulcerans infection

artículo científico publicado en 2020

Stepwise replication identifies a low-producing lymphotoxin-α allele as a major risk factor for early-onset leprosy

article by Alexandre Alcaïs et al published 11 March 2007 in Nature Genetics

Strong correlations of anti-viral capsid antigen antibody levels in first-degree relatives from families with Epstein-Barr virus-related lymphomas

artículo científico publicado en 2009

Susceptibility to leprosy is associated with PARK2 and PACRG.

artículo científico publicado en 2004

Susceptibility to leprosy is linked to the human NRAMP1 gene.

artículo científico publicado en 1998

Susceptibility to periportal (Symmers) fibrosis in human schistosoma mansoni infections: evidence that intensity and duration of infection, gender, and inherited factors are critical in disease progression

artículo científico publicado en 1999

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

TLR3 immunity to infection in mice and humans

artículo científico publicado en 2013

The Maximum-Likelihood-Binomial method revisited: a robust approach for model-free linkage analysis of quantitative traits in large sibships

article

The dissection of complex susceptibility to infectious disease: bacterial, viral and parasitic infections

artículo científico publicado en 2014

The gene for incontinentia pigmenti is assigned to Xq28.

artículo científico publicado en 1989

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 interplay between environmental and host factors during an outbreak of visceral leishmaniasis in eastern Sudan

artículo científico publicado en 2002

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

artículo científico publicado en 2016

The phannacokinetics and extravascular diffusion of teicoplanin in rabbits and comparative efficacy with vancomycin in an experimental endocarditis model

article

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

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

artículo científico publicado en 2020

Tuberculin Skin Test and In Vitro Assays Provide Complementary Measures of Antimycobacterial Immunity in Children and Adolescents

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

Tuberculin skin test reactivity is dependent on host genetic background in Colombian tuberculosis household contacts

artículo científico publicado en 2012

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

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

Value of antibiotic levels in serum and cardiac vegetations for predicting antibacterial effect of ceftriaxone in experimental Escherichia coli endocarditis

artículo científico publicado en 1987

WITHDRAWN: Genetic infectious susceptibility and TLR defects in human

retracted paper

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 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

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