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List of works by Laurent Abel

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

scientific article published on October 13, 2003

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

scientific article published on 4 February 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

scientific article published on 15 April 2008

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

scientific article

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

scientific article

A genome-wide association study of pulmonary tuberculosis in Morocco

scientific article published on 14 January 2016

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

scientific article published on 27 July 2020

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

scientific article published on 20 April 2022

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

scientific article published in May 2010

A major gene effect controls resistance to caries

scientific article published in March 2011

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

scientific article

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

scientific article published on 6 October 2006

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

scientific article published in 2012

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

scientific article

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

scientific article

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

scientific article published on February 2007

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

scientific article

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

scientific article

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

scientific article

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

scientific article

A partial form of recessive STAT1 deficiency in humans

scientific article

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

scientific article

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

scientific article published on 01 February 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

scientific article published on 4 March 2008

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

scientific article published in January 1990

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

scientific article published in May 1998

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

scientific article published on 14 May 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

scientific article published on 31 May 2010

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

scientific article published on 14 February 2013

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

scientific article

Amodiaquine-induced immune agranulocytosis

scientific article published in January 1989

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

scientific article published on 10 October 2013

An Extensive Comparison of Quantitative Trait Loci Mapping Methods

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

scientific article

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

scientific article published on 9 October 2017

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

scientific article

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

scientific article published in January 1986

Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco

scientific article

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

scientific article published on 15 October 2014

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

scientific article

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

scientific article

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

scientific article published on 24 September 2020

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

scientific article

Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patients

scientific article published in 2024

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

scientific article published on 18 May 2018

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis

scientific article published on April 2017

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

scientific article published on 17 August 2016

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

scientific article published on 27 December 2018

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

scientific article published on 27 June 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.

scientific article

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

scientific article published on 18 July 2016

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

scientific article

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

scientific article published on 5 March 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

scientific article

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

scientific article

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

scientific article published on 14 January 2009

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

scientific article published on 17 June 2014

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on April 1987

Comparison of four sib-pair linkage methods for analyzing sibships with more than two affecteds: Interest of the binomial maximum likelihood approach ⬇️

scientific article published on January 1, 1998

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

scientific article published on January 1995

Complex segregation analysis of leprosy in Southern Vietnam

article

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

scientific article published on 01 June 2020

Deep dermatophytosis and inherited CARD9 deficiency

scientific article

Deep resequencing identifies candidate functional genes in leprosy GWAS loci

scientific article published on 08 December 2021

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

scientific article published on 21 July 2000

Disentangling inborn and acquired immunity in human twins

scientific article published on January 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

scientific article published on 14 May 2008

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

scientific article published on 01 June 2020

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

scientific article published on 19 September 2016

EVER2 deficiency is associated with mild T-cell abnormalities

scientific article published on 19 August 2012

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

scientific article published in January 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

scientific article published in Nature

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

scientific article published in June 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

scientific article

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

scientific article published on 23 July 2009

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

scientific article

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

scientific article

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

scientific article

Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles

scientific article published on 2 August 2006

Exome and genome sequencing for inborn errors of immunity

scientific article

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

scientific article

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency

scientific article published on 01 January 2020

Ferritin H gene polymorphism in idiopathic hemochromatosis

article

Forward genetics of infectious diseases: immunological impact

article

From infectious diseases to primary immunodeficiencies

scientific article published on May 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

scientific article

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

scientific article

Gains of glycosylation mutations

scientific article

Gene set signature of reversal reaction type I in leprosy patients

scientific article

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

scientific article

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

scientific article

Genetic dissection of immunity in leprosy

scientific article

Genetic dissection of immunity to mycobacteria: the human model

scientific article

Genetic epidemiology of host predisposition microfilaraemia in human loiasis

scientific article published on August 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

scientific article published in December 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 ⬇️

scientific article published on June 1, 2010

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

scientific article

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

scientific article published on December 2007

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

scientific article published on 07 December 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

scientific article

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

scientific article

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

scientific article published on 3 May 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

scientific article published on 16 November 2012

Helper T cell immunity in humans with inherited CD4 deficiency

scientific article published in 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

scientific article published on 21 November 2011

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

scientific article

Herpes simplex virus encephalitis in human UNC-93B deficiency

scientific article

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

scientific article

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

scientific article published in January 2010

High occurence of DRB1 11 in chronic lymphocytic leukaemia families

scientific article published on 01 December 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

scientific article published on 04 September 2019

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

scientific article published on 4 January 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.

scientific article published on February 2017

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

scientific article published on 25 May 2015

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

scientific article published on 01 December 2018

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

scientific article published on May 2004

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

scientific article (publication date: 4 September 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

scientific article published on January 2011

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

scientific article

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

scientific article

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

scientific article published on December 2007

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

scientific article

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

scientific article published in 2021

Human genetic and immunological determinants of critical COVID-19 pneumonia

scientific article published on 28 January 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

scientific article published on 15 December 2017

Human genetics of infectious diseases: a unified theory

scientific article published on 25 January 2007

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

scientific article published on September 2009

Human genetics of tuberculosis

scientific article published on January 2013

Human genetics of tuberculosis: a long and winding road

scientific article

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

scientific article published in September 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

scientific article

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

scientific article

Human malaria: segregation analysis of blood infection levels in a suburban area and a rural area in Burkina Faso

scientific article published on January 1, 1998

Human monogenic disorders that confer predisposition to specific infections.

scientific article published on January 2007

Human primary immunodeficiencies of type I interferons

scientific article published on 8 May 2007

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

scientific article (publication date: 13 April 2011)

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

scientific article published on 16 December 2011

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

scientific article

IRF4 haploinsufficiency in a family with Whipple's disease.

scientific article

IRF8 mutations and human dendritic-cell immunodeficiency

scientific article

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

scientific article published on 25 June 2013

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

scientific article published on 04 November 2019

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

scientific article

Immunology taught by human genetics

scientific article published on 03 October 2013

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

scientific article published on 15 December 2015

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

scientific article published on 11 September 2014

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

scientific article

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

scientific article published in February 2018

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

scientific article published on 07 August 2017

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

scientific article published on December 2012

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

scientific article

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

scientific article

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

scientific article published on December 2008

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

scientific article published on 30 July 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

scientific article published on 30 December 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?

scientific article published on August 2001

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

scientific article

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection

scientific article published on 23 July 2014

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

scientific article published on 19 February 2015

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

scientific article published on June 2015

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

scientific article published on 17 April 2017

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

scientific article published on 03 July 2019

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

scientific article published on March 2013

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

scientific article published on 27 April 2015

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

scientific article

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections

scientific article

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

scientific article published on 28 June 2021

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

scientific article published on March 2015

Inherited human IFNγ deficiency underlies mycobacterial disease

scientific article published on 12 March 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

scientific article published on 29 July 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

scientific article

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

scientific article published on March 2006

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

scientific article published on 29 June 2010

Invasive pneumococcal disease in children can reveal a primary immunodeficiency

scientific article

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

scientific article

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

scientific article published on 15 October 2015

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

scientific article

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

scientific article

Leprosy and BCG in southern Vietnam

scientific article published in June 1990

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

scientific article published on 14 April 2020

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

scientific article published on 13 April 2011

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

scientific article published on 01 December 2020

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

scientific article

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

scientific article published on 24 August 2018

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

scientific article published in July 2000

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

scientific article published on 01 November 1988

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

scientific article

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

scientific article

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

scientific article published on 21 December 2015

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

scientific article

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

scientific article

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

scientific article published in August 1998

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

scientific article published on 27 March 2018

Mendelian predisposition to herpes simplex encephalitis

scientific article published on January 2013

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

scientific article

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

scientific article published on 12 June 2006

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

scientific article published on 2 July 2013

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

scientific article published on 30 April 2018

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

scientific article published on January 1989

Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect

scientific article published on 29 February 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

scientific article

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

scientific article published on July 2008

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 January 2021

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

scientific article published on 26 May 2011

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

scientific article published on February 2008

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

scientific article published on 20 August 2013

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

scientific article published on 22 February 2012

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

scientific article

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

scientific article

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

scientific article published on 01 October 1988

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

scientific article published on 23 January 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

scientific article

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

scientific article published on December 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

scientific article published on 16 March 2010

Primary immunodeficiencies: a field in its infancy

scientific article

Primary immunodeficiency diseases worldwide: more common than generally thought

scientific article

Pyogenic bacterial infections in humans with MyD88 deficiency

scientific article

Quantifying genomic imprinting in the presence of linkage

scientific article published in December 2006

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 18 December 2018

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

scientific article

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

scientific article published in December 2004

Revisiting Crohn's disease as a primary immunodeficiency of macrophages

scientific article

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

scientific article

Revisiting human primary immunodeficiencies

scientific article published on 09 June 2008

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

scientific article

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

scientific article

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

scientific article

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

scientific article published on January 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

scientific article

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

scientific article published on 01 July 2019

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

scientific article

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

scientific article

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

scientific article published on 26 February 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

scientific article published on April 2009

Susceptibility to leprosy is associated with PARK2 and PACRG.

scientific article

Susceptibility to leprosy is linked to the human NRAMP1 gene.

scientific article

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

scientific article published in October 1999

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

scientific article published on 01 January 2021

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

scientific article

TLR3 deficiency in patients with herpes simplex encephalitis

scientific article

TLR3 immunity to infection in mice and humans

scientific article published on 3 January 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

scientific article

The gene for incontinentia pigmenti is assigned to Xq28.

scientific article

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

scientific article published on 29 May 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

scientific article published on 18 March 2013

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

scientific article

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

scientific article published on 27 May 2020

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

scientific article published on January 2004

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

scientific article published on 29 February 2024

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

scientific article published in November 2002

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

scientific article published on January 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

scientific article published on 21 February 2013

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

scientific article published on 16 May 2022

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

scientific article published on 22 June 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

scientific article

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

scientific article published on 30 January 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

scientific article published on December 2005

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

scientific article

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

scientific article published on December 2016

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

scientific article published on October 1987

WITHDRAWN: Genetic infectious susceptibility and TLR defects in human

retracted paper

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

scientific article published on 31 May 2016

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

scientific article

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

scientific article

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

scientific article published on 31 March 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

scientific article

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