Explanipedia

Human LY9 governs CD4 + T cell IFN-γ immunity to Mycobacterium tuberculosis Open

Masato Ogishi, Julia Puchan, Rui Yang, Andrés A. Arias, Ji Eun Han , et al. · 2025

CD4 + T cells are indispensable for optimal immunity to Mycobacterium tuberculosis ( M.tb ), a pathogen that triggers tuberculosis (TB) in humans. M.tb -specific human CD4 + T cells are known to polarize toward an interferon-γ (IFN-γ)–prod…

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis Open

Masato Ogishi, Rui Yang, Rémy Rodriguez, Dominic P. Golec, Emmanuel Martin , et al. · 2022

Inborn errors of IFN-γ immunity can underlie tuberculosis (TB). We report three patients from two kindreds without EBV viremia or disease but with severe TB and inherited complete ITK deficiency, a condition associated with severe EBV dise…

Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency Open

Masato Ogishi, Andrés A. Arias, Rui Yang, Ji Eun Han, Peng Zhang , et al. · 2022

Human cells homozygous for rare loss-of-expression (LOE) TYK2 alleles have impaired, but not abolished, cellular responses to IFN-α/β (underlying viral diseases in the patients) and to IL-12 and IL-23 (underlying mycobacterial diseases). C…

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin Open

András N. Spaan, Anna‐Lena Neehus, Emmanuel Laplantine, Frederik Staels, Masato Ogishi , et al. · 2022

The molecular basis of interindividual clinical variability upon infection with Staphylococcus aureus is unclear. We describe patients with haploinsufficiency for the linear deubiquitinase OTULIN, encoded by a gene on chromosome 5p. Patien…

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency Open

Juan Li, Wei‐Te Lei, Peng Zhang, Franck Rapaport, Yoann Seeleuthner , et al. · 2021

Autosomal dominant (AD) NFKB1 deficiency is thought to be the most common genetic etiology of common variable immunodeficiency (CVID). However, the causal link between NFKB1 variants and CVID has not been demonstrated experimentally and ge…

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

Masato Ogishi, Rui Yang, Caner Aytekin, David Langlais, Mathieu Bourgey , et al. · 2021

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance Open

Takaki Asano, Joëlle Khourieh, Peng Zhang, Franck Rapaport, András N. Spaan , et al. · 2021

Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have been experimentally shown to be dominant negative (DN), and it has been recently…

Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease Open

Tom Le Voyer, Anna‐Lena Neehus, Rui Yang, Masato Ogishi, Jérémie Rosain , et al. · 2021

Significance Mendelian susceptibility to mycobacterial disease (MSMD) is defined by selective vulnerability to weakly virulent mycobacteria. The 32 known inborn errors of IFN-γ immunity account for MSMD in about half of the patients, and f…

Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine Open

Paul Bastard, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Marwa Chbihi, Tom Le Voyer , et al. · 2021

Yellow fever virus (YFV) live attenuated vaccine can, in rare cases, cause life-threatening disease, typically in patients with no previous history of severe viral illness. Autosomal recessive (AR) complete IFNAR1 deficiency was reported i…

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions Open

Marta Martín-Fernández, María Bravo García‐Morato, Conor Gruber, Sara Murias Loza, Muhammad Nasir Hayat Malik , et al. · 2020

Most monogenic disorders have a primary clinical presentation. Inherited ISG15 deficiency, however, has manifested with two distinct presentations to date: susceptibility to mycobacterial disease and intracranial calcifications from hypomo…

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

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…

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β Open

Juan Li, Marco Ritelli, S. Cindy, Geetha Rao, Tanwir Habib , et al. · 2019

Human JNK1 is essential for IL-17A/F–dependent mucocutaneous immunity to Candida and for TGF-β–dependent homeostasis of connective tissues.

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

Joëlle Khourieh, Geetha Rao, Tanwir Habib, Danielle T. Avery, Alain Lefèvre‐Utile , et al. · 2019

Significance Heterozygous in-frame mutations in human STAT3 coding regions underlie the only known autosomal dominant form of hyper IgE syndrome (AD HIES). About 5% of familial cases remain unexplained. We report a deep intronic heterozygo…

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

Bertrand Boisson, Yoshitaka Honda, Masahiko Ajiro, Jacinta Bustamante, Matthieu Bendavid , et al. · 2018

X-linked dominant incontinentia pigmenti (IP) and X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) are caused by loss-of-function and hypomorphic IKBKG (also known as NEMO) mutations, respectively. We descr…

Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature Open

Karina S. Gobin, Mary Hintermeyer, Bertrand Boisson, Maya Chrabieh, Pegah Ghandil , et al. · 2018

The authors would like to make a correction in this article. Dr Pegah Ghandil, whose surname was previously incorrectly spelt as Gandil is also affiliated with the following institutions: 1. Diabetes Research Center, Ahvaz Jundishapur Univ…

IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature Open

Karina S. Gobin, Mary Hintermeyer, Bertrand Boisson, Maya Chrabieh, Pegah Ghandil , et al. · 2017

Primary immunodeficiencies are genetic defects of the innate or adaptive immune system, resulting in a propensity to infections. The innate immune system is the first line of defense against pathogens and is critical to recognize microbes …

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity Open

Laura Israël, Ying Wang, Katarzyna Bulek, Erika Della Mina, Zhao Zhang , et al. · 2017

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts Open

Erika Della Mina, A. Borghesi, Hao Zhou, Salim Bougarn, Sabri Boughorbel , et al. · 2017

Significance We report the discovery of complete human interleukin-1 receptor (IL-1R)-associated kinase 1 (IRAK-1) deficiency resulting from a de novo Xq28 microdeletion encompassing MECP2 and IRAK1 in a boy. Like many boys with MECP2 defe…

Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations Open

Yi Wang, S. Cindy, Yun Ling, Aziz Bousfiha, Yıldız Çamcıoğlu , et al. · 2016

Combined immunodeficiency (CID) refers to inborn errors of human T cells that also affect B cells because of the T cell deficit or an additional B cell–intrinsic deficit. In this study, we report six patients from three unrelated families …

Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome Open

Carine Le Goff, Curtis Rogers, Wilfried Le Goff, Graziella Pinto, Damien Bonnet , et al. · 2016

Proinflammatory cytokine response toward fungi but not bacteria in chronic granulomatous disease Open

Roel P. Gazendam, Annemarie van de Geer, John L. van Hamme, Leanne C. Helgers, Jan Rohr , et al. · 2016

Chronic granulomatous disease (CGD) is characterized by recurrent bacterial and fungal infections, granulomas, and sometimes inflammatory bowel disease.1Roos D. de Boer M. Molecular diagnosis of chronic granulomatous disease.Clin Exp Immun…

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

Bertrand Boisson, Emmanuel Laplantine, Kerry Dobbs, Aurélie Cobat, Nadine Tarantino , et al. · 2015

Inherited, complete deficiency of human HOIL-1, a component of the linear ubiquitination chain assembly complex (LUBAC), underlies autoinflammation, infections, and amylopectinosis. We report the clinical description and molecular analysis…

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