Aurélie COBAT | Institut Imagine

Presentation

PhD, HDR, MD, PI, CRHC

Aurélie COBAT

Human genetics of infectious diseases

Contact :

01 42 75 43 12

aurelie.cobat@inserm.fr

About

Financements

Scientific Publications

Publications

2026

Humans homozygous for rare or common hypomorphic IL23R variants are prone to ..., J Exp Med
2026

GDIv2: improving variant selection from human exomes., Bioinform Adv
2026

High Nasopharyngeal SARS-CoV-2 Load and Delayed Clearance in Hospitalized Pat..., J Infect Dis
2026

High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with ..., medRxiv
2026

Genome-wide detection of human 5' UTR variants that impact protein translation., Am J Hum Genet
2026

Autoantibodies neutralizing type I IFNs in 40% of patients with WNV encephali..., J Hum Immun
2026

Human LFA-1 governs T cell immune surveillance of the skin., Sci Immunol
2025

Autoantibodies neutralizing type I IFNs in patients with fulminant herpes sim..., J Exp Med
2025

A human YEATS4 variant confers resistance to TST and IGRA conversion despite ..., Genome Med
2025

MosCoverY: A method to estimate mosaic loss of Y chromosome from sequencing c..., Am J Hum Genet
2025

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity., J Hum Immun
2025

Human LY9 governs CD4 T cell IFN-γ immunity to ., Sci Immunol
2024

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I..., J Exp Med
2024

Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalit..., J Exp Med
2024

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus an..., J Exp Med
2024

Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 i..., HGG Adv
2024

The immunopathological landscape of human pre-TCRα deficiency: From rare to c..., Science
2024

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-..., J Exp Med
2023

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs n..., Sci Immunol
2023

Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to ..., Cell
2023

Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis..., J Exp Med
2023

Human Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants., Annu Rev Biomed Data Sci
2023

Rare predicted loss-of-function variants of type I IFN immunity genes are ass..., Genome Med
2022

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneu..., J Exp Med
2022

The risk of COVID-19 death is much greater and age dependent with type I IFN ..., Proc Natl Acad Sci U S A
2022

Human genetic and immunological determinants of critical COVID-19 pneumonia., Nature
2021

Deep resequencing identifies candidate functional genes in leprosy GWAS loci., PLoS Negl Trop Dis
2021

Controlling for human population stratification in rare variant association s..., Sci Rep
2021

Autoantibodies neutralizing type I IFNs are present in 4% of uninfected indiv..., Sci Immunol
2021

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life..., Sci Immunol
2021

Taking population stratification into account by local permutations in rare-v..., Genet Epidemiol
2021

Association of rare predicted loss-of-function variants of influenza-related ..., J Clin Invest
2021

Detection of homozygous and hemizygous complete or partial exon deletions by ..., NAR Genom Bioinform
2021

A computational approach for detecting physiological homogeneity in the midst..., Am J Hum Genet
2021

Genome-wide association study of resistance to Mycobacterium tuberculosis inf..., PLoS Genet
2021

Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever..., J Exp Med
2020

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19., Science
2020

Autoantibodies against type I IFNs in patients with life-threatening COVID-19., Science
2019

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibro..., Front Genet
2019

Prevalence and risk factors for latent tuberculosis infection among healthcar..., PLoS One
2019

Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Park..., Proc Natl Acad Sci U S A
2019

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reacti..., J Exp Med
2019

Inherited IL-18BP deficiency in human fulminant viral hepatitis., J Exp Med
2019

Homozygosity for P1104A underlies tuberculosis in about 1% of patients in a ..., Proc Natl Acad Sci U S A
2018

Blacklisting variants common in private cohorts but not in public databases o..., Proc Natl Acad Sci U S A
2018

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous..., Sci Immunol
2018

HCV-Associated Liver Fibrosis and HSD17B13., N Engl J Med
2018

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies., J Clin Invest
2018

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection., Cell
2017

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobac..., Sci Rep
2017

Deciphering the genetic control of gene expression following Mycobacterium le..., PLoS Genet
2017

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associate..., Am J Med Genet A
2017

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis., J Am Coll Cardiol
2017

Population Pharmacokinetic Modeling of Tenofovir in the Genital Tract of Male..., Antimicrob Agents Chemother
2017

A genome wide association study identifies a lncRna as risk factor for pathol..., PLoS Genet
2016

Exome and genome sequencing for inborn errors of immunity., J Allergy Clin Immunol
2016

coding variants are associated with a high risk of hepatocellular carcinoma o..., Oncotarget
2016

A new 3p25 locus is associated with liver fibrosis progression in human immun..., Hepatology
2016

Whole-exome sequencing to analyze population structure, parental inbreeding, ..., Proc Natl Acad Sci U S A
2016

Pauci- and Multibacillary Leprosy: Two Distinct, Genetically Neglected Diseases., PLoS Negl Trop Dis
2016

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS., N Engl J Med
2016

A Missense LRRK2 Variant Is a Risk Factor for Excessive Inflammatory Response..., PLoS Negl Trop Dis
2015

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered..., J Infect Dis
2015

Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- o..., PLoS One

Presentation

About

Financements

Scientific Publications

Humans homozygous for rare or common hypomorphic IL23R variants are prone to ..., J Exp Med

GDIv2: improving variant selection from human exomes., Bioinform Adv

High Nasopharyngeal SARS-CoV-2 Load and Delayed Clearance in Hospitalized Pat..., J Infect Dis

High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with ..., medRxiv

Genome-wide detection of human 5' UTR variants that impact protein translation., Am J Hum Genet

Autoantibodies neutralizing type I IFNs in 40% of patients with WNV encephali..., J Hum Immun

Human LFA-1 governs T cell immune surveillance of the skin., Sci Immunol

Autoantibodies neutralizing type I IFNs in patients with fulminant herpes sim..., J Exp Med

A human YEATS4 variant confers resistance to TST and IGRA conversion despite ..., Genome Med

MosCoverY: A method to estimate mosaic loss of Y chromosome from sequencing c..., Am J Hum Genet

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity., J Hum Immun

Human LY9 governs CD4 T cell IFN-γ immunity to ., Sci Immunol

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I..., J Exp Med

Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalit..., J Exp Med

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus an..., J Exp Med

Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 i..., HGG Adv

The immunopathological landscape of human pre-TCRα deficiency: From rare to c..., Science

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-..., J Exp Med

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs n..., Sci Immunol

Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to ..., Cell

Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis..., J Exp Med

Human Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants., Annu Rev Biomed Data Sci

Rare predicted loss-of-function variants of type I IFN immunity genes are ass..., Genome Med

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneu..., J Exp Med

The risk of COVID-19 death is much greater and age dependent with type I IFN ..., Proc Natl Acad Sci U S A

Human genetic and immunological determinants of critical COVID-19 pneumonia., Nature

Deep resequencing identifies candidate functional genes in leprosy GWAS loci., PLoS Negl Trop Dis

Controlling for human population stratification in rare variant association s..., Sci Rep

Autoantibodies neutralizing type I IFNs are present in 4% of uninfected indiv..., Sci Immunol

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life..., Sci Immunol

Taking population stratification into account by local permutations in rare-v..., Genet Epidemiol

Association of rare predicted loss-of-function variants of influenza-related ..., J Clin Invest

Detection of homozygous and hemizygous complete or partial exon deletions by ..., NAR Genom Bioinform

A computational approach for detecting physiological homogeneity in the midst..., Am J Hum Genet

Genome-wide association study of resistance to Mycobacterium tuberculosis inf..., PLoS Genet

Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever..., J Exp Med

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

Autoantibodies against type I IFNs in patients with life-threatening COVID-19., Science

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibro..., Front Genet

Prevalence and risk factors for latent tuberculosis infection among healthcar..., PLoS One

Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Park..., Proc Natl Acad Sci U S A

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reacti..., J Exp Med

Inherited IL-18BP deficiency in human fulminant viral hepatitis., J Exp Med

Homozygosity for P1104A underlies tuberculosis in about 1% of patients in a ..., Proc Natl Acad Sci U S A

Blacklisting variants common in private cohorts but not in public databases o..., Proc Natl Acad Sci U S A

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous..., Sci Immunol

HCV-Associated Liver Fibrosis and HSD17B13., N Engl J Med

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies., J Clin Invest

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

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobac..., Sci Rep

Deciphering the genetic control of gene expression following Mycobacterium le..., PLoS Genet

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associate..., Am J Med Genet A

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis., J Am Coll Cardiol

Population Pharmacokinetic Modeling of Tenofovir in the Genital Tract of Male..., Antimicrob Agents Chemother

A genome wide association study identifies a lncRna as risk factor for pathol..., PLoS Genet

Exome and genome sequencing for inborn errors of immunity., J Allergy Clin Immunol

coding variants are associated with a high risk of hepatocellular carcinoma o..., Oncotarget

A new 3p25 locus is associated with liver fibrosis progression in human immun..., Hepatology

Whole-exome sequencing to analyze population structure, parental inbreeding, ..., Proc Natl Acad Sci U S A

Pauci- and Multibacillary Leprosy: Two Distinct, Genetically Neglected Diseases., PLoS Negl Trop Dis

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS., N Engl J Med

A Missense LRRK2 Variant Is a Risk Factor for Excessive Inflammatory Response..., PLoS Negl Trop Dis

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered..., J Infect Dis

Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- o..., PLoS One