Explanipedia

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria Open

Jérémie Rosain, Anna‐Lena Neehus, Jérémy Manry, Rui Yang, Jérémie Le Pen , et al. · 2025

A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure Open

Clément Conil, Jonathan Bohlen, Elouise E. Kroon, Marc Antoine Jean‐Juste, Jérémy Manry , et al. · 2025

We report a new cluster of variants on chromosome 12q15, overlapping the YEATS4 gene, strongly associated with the resister phenotype in two populations of PWH. Our results contribute to the understanding of the molecular mechanisms that b…

Transcriptome immune-regulatory differences between leprosy patients and type 1 reaction patients, before onset of symptoms Open

Wilian Correa-Macedo, Monica Dallmann-Sauer, Marianna Orlova, Jérémy Manry, Vinicius M. Fava , et al. · 2024

Leprosy is a chronic disease of the skin and peripheral nerves caused by Mycobacterium leprae . A major public health and clinical problem are leprosy reactions, which are inflammatory episodes that often contribute to nerve damage and dis…

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 Open

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jérémy Manry , et al. · 2024

Type 1 reaction leprosy patients display distinct immune-regulatory capacity before onset of symptoms Open

Wilian Correa-Macedo, Monica Dallmann-Sauer, Marianna Orlova, Jérémy Manry, Vinicius M. Fava , et al. · 2023

Leprosy is a chronic disease of the skin and peripheral nerves caused by Mycobacterium leprae . A major public health and clinical problem are leprosy reactions, which are inflammatory episodes that often contribute to nerve damage and dis…

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 Open

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jérémy Manry , et al. · 2023

Allele-dependent interaction of LRRK2 and NOD2 in leprosy Open

Monica Dallmann-Sauer, Yong Zhong Xu, Ana Lúcia França da Costa, Shao Tao, Tiago Araújo Gomes , et al. · 2023

Leprosy, caused by Mycobacterium leprae , rarely affects children younger than 5 years. Here, we studied a multiplex leprosy family that included monozygotic twins aged 22 months suffering from paucibacillary leprosy. Whole genome sequenci…

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria Open

Jérémie Rosain, Anna‐Lena Neehus, Jérémy Manry, Rui Yang, Jérémie Le Pen , et al. · 2023

Additional file 2 of Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 Open

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jérémy Manry , et al. · 2023

Additional file 2: Table S1. Number of genes tested and Genomic inflation factor for each model and variant set. Table S2. Complete results of the genome-wide burden joint analysis, trans-pipeline meta-analysis and trans-ethnic meta-analys…

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 Open

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Jérémy Manry, Yoann Seeleuthner , et al. · 2022

Background We previously reported inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity in 1-5% of unvaccinated patients with life-threatening COVID-19, and auto-antibodies against type I IFN in another 15-20% of cases…

Autoantibodies against type I IFNs in patients with critical influenza pneumonia Open

Qian Zhang, Andrés Pizzorno, Lisa Miorin, Paul Bastard, Adrian Gervais , et al. · 2022

Autoantibodies neutralizing type I interferons (IFNs) can underlie critical COVID-19 pneumonia and yellow fever vaccine disease. We report here on 13 patients harboring autoantibodies neutralizing IFN-α2 alone (five patients) or with IFN-ω…

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs Open

Paul Bastard, Sara E. Vazquez, Jamin Liu, Matthew T. Laurie, Chung‐Yu Wang , et al. · 2022

Life-threatening “breakthrough” cases of critical COVID-19 are attributed to poor or waning antibody (Ab) response to SARS-CoV-2 vaccines in individuals already at risk. Preexisting auto-Abs neutralizing type I IFNs underlie at least 15% o…

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

Jérémy Manry, Paul Bastard, Adrian Gervais, Tom Le Voyer, Jérémie Rosain , et al. · 2022

Significance There is growing evidence that preexisting autoantibodies neutralizing type I interferons (IFNs) are strong determinants of life-threatening COVID-19 pneumonia. It is important to estimate their quantitative impact on COVID-19…

Human genetic and immunological determinants of critical COVID-19 pneumonia Open

Qian Zhang, Paul Bastard, Adem Karbuz, Adrian Gervais, Ahmad Abou Tayoun , et al. · 2022

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

Jérémy Manry, Paul Bastard, Adrian Gervais, Tom Le Voyer, Jérémie Rosain , et al. · 2022

SARS-CoV-2 infection fatality rate (IFR) doubles with every five years of age from childhood onward. Circulating autoantibodies neutralizing IFN-α, IFN-ω, and/or IFN-β are found in ~20% of deceased patients across age groups. In the genera…

Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis Open

Jie Chen, Huie Jing, Andrea Martín-Nalda, Paul Bastard, Jacques G. Rivière , et al. · 2021

Enterovirus (EV) infection rarely results in life-threatening infection of the central nervous system. We report two unrelated children with EV30 and EV71 rhombencephalitis. One patient carries compound heterozygous TLR3 variants (loss-of-…

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths Open

Paul Bastard, Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Quentin Philippot , et al. · 2021

Circulating autoantibodies (auto-Abs) neutralizing high concentrations (10 ng/ml; in plasma diluted 1:10) of IFN-α and/or IFN-ω are found in about 10% of patients with critical COVID-19 (coronavirus disease 2019) pneumonia but not in indiv…

Early onset leprosy reveals a joint effect of LRRK2 and NOD2 variants Open

Monica Dallmann-Sauer, Yong Zhong Xu, Ana Lúcia França da Costa, Shao Tao, Wilian Correa-Macedo , et al. · 2021

Leprosy, caused by Mycobacterium leprae , has a long incubation period and cases with age-of-onset <5 years are rare. Here, we studied a three-generational multiplex leprosy family which included monozygotic twins age <24 months suffering …

Mycolactone toxin induces an inflammatory response by targeting the IL-1β pathway: Mechanistic insight into Buruli ulcer pathophysiology Open

Mélanie Foulon, Marie Robbe-Saule, Jérémy Manry, Lucille Esnault, Yan Boucaud , et al. · 2020

Mycolactone, a lipid-like toxin, is the major virulence factor of Mycobacterium ulcerans , the etiological agent of Buruli ulcer. Its involvement in lesion development has been widely described in early stages of the disease, through its c…

Autoantibodies against type I IFNs in patients with life-threatening COVID-19 Open

Paul Bastard, Lindsey B. Rosen, Qian Zhang, Eleftherios Michailidis, Hans-Heinrich Hoffmann , et al. · 2020

The genetics underlying severe COVID-19 The immune system is complex and involves many genes, including those that encode cytokines known as interferons (IFNs). Individuals that lack specific IFNs can be more susceptible to infectious dise…

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

Qian Zhang, Paul Bastard, Zhiyong Liu, Jérémie Le Pen, Marcela Moncada‐Vélez , et al. · 2020

The genetics underlying severe COVID-19 The immune system is complex and involves many genes, including those that encode cytokines known as interferons (IFNs). Individuals that lack specific IFNs can be more susceptible to infectious dise…

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

Paul Bastard, Jérémy Manry, Jie Chen, Jérémie Rosain, Yoann Seeleuthner , et al. · 2020

Inborn errors of TLR3-dependent IFN-α/β- and IFN-λ-mediated immunity in the CNS can underlie herpes simplex virus 1 (HSV-1) encephalitis (HSE). The respective contributions of IFN-α/β and IFN-λ are unknown. We report a child homozygous for…

Genome-wide association study of Buruli ulcer in rural Benin highlights role of two LncRNAs and the autophagy pathway Open

Jérémy Manry, Quentin B. Vincent, Christian Johnson, Maya Chrabieh, Lazaro Lorenzo , et al. · 2020

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

Mélanie Foulon, Amélie Pouchin, Jérémy Manry, Fida Khater, Marie Robbe-Saule , et al. · 2020

We demonstrate the production of skin-specific antibodies with neutralizing activity against mycolactone toxin.

Genome-wide association study of Buruli ulcer in rural Benin Open

Jérémy Manry, Quentin B. Vincent, Maya Chrabieh, Lazaro Lorenzo, Ioannis Theodorou , et al. · 2019

Buruli ulcer, caused by Mycobacterium ulcerans , is the third mycobacterial disease worldwide characterized by devastating necrotizing skin lesions. The role of host genetics in susceptibility to Buruli ulcer has long been suggested. We co…

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

Quentin B. Vincent, Aziz Belkadi, Cindy Fayard, Estelle Marion, Ambroise Adeye , et al. · 2018

Buruli ulcer (BU), the third most frequent mycobacteriosis worldwide, is a neglected tropical disease caused by Mycobacterium ulcerans. We report the clinical description and extensive genetic analysis of a consanguineous family from Benin…

Deciphering the genetic control of gene expression following Mycobacterium leprae antigen stimulation Open

Jérémy Manry, Yohann Nédélec, Vinicius M. Fava, Aurélie Cobat, Marianna Orlova , et al. · 2017

Leprosy is a human infectious disease caused by Mycobacterium leprae. A strong host genetic contribution to leprosy susceptibility is well established. However, the modulation of the transcriptional response to infection and the mechanism(…

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

Vinicius M. Fava, Jérémy Manry, Aurélie Cobat, Marianna Orlova, Nguyen Van Thuc , et al. · 2017

Leprosy Type-1 Reactions (T1Rs) are pathological inflammatory responses that afflict a sub-group of leprosy patients and result in peripheral nerve damage. Here, we employed a family-based GWAS in 221 families with 229 T1R-affect offspring…

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

Vinicius M. Fava, Jérémy Manry, Aurélie Cobat, Marianna Orlova, Nguyen Van Thuc , et al. · 2016

The results support a preferential association of LRRK2 variants with T1R. LRRK2 involvement in T1R is likely due to a pathological pro-inflammatory loop modulated by LRRK2 availability. Interestingly, the M2397T variant was reported in as…

Discriminant Analysis of Principal Components (DAPC) for G2a-P15 haplotypes. Open

Alessio Boattini, Begoña Martínez‐Cruz, Stefania Sarno, Christine Harmant, Antonella Useli , et al. · 2015

Samples are grouped according to their affiliation at the sPCA-identified groups (NWI; SEI; SAR; symbols in the top right table). The table in the bottom left shows the number of haplotypes in each of the five G2a clusters and their geogra…

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