Explanipedia

A novel heterozygous pathogenic <i>AIRE</i> variant causing autoimmunity but not infectious susceptibility Open

Mounavi Vemula, Bergithe E Oftedal, Dorsa Iraji, Mélanie Migaud, Christopher M. Richmond , et al. · 2025

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is characterized by the triad of hypoparathyroidism, Addison’s disease, and chronic mucocutaneous candidiasis due to biallelic deleterious variants in AIRE. However, e…

Abundant Yet Aberrant T Helper Cell Responses to <i>Candida albicans</i> Underlie Mucosal Candidiasis in Humans and Mice Open

Camilla Basso, Corinne De Gregorio, Roberta Marzi, Florian Kirchner, Gábor Gyülvészi , et al. · 2025

T helper cell subsets—Th1, Th2, and Th17—coordinate pathogen‐specific immune responses. Candida albicans ‐specific T cells include protective Th17 cells alongside other Th subsets. However, the role of alternative Th subsets remains unclea…

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans Open

Quentin Riller, Boris Sorin, Charline Courteille, Duong Ho‐Nhat, Tom Le Voyer , et al. · 2024

IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impa…

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases Open

Jérémie Rosain, Tom Le Voyer, Xian Liu, Adrian Gervais, Laura Polivka , et al. · 2024

Human inborn errors of thymic T cell tolerance underlie the production of autoantibodies (auto-Abs) neutralizing type I IFNs, which predispose to severe viral diseases. We analyze 131 female patients with X-linked dominant incontinentia pi…

Inherited human RelB deficiency impairs innate and adaptive immunity to infection Open

Tom Le Voyer, Majistor Raj Luxman Maglorius Renkilaraj, Kunihiko Moriya, Malena Pérez Lorenzo, Tina Nguyen , et al. · 2024

We report two unrelated adults with homozygous (P1) or compound heterozygous (P2) private loss-of-function variants of V-Rel Reticuloendotheliosis Viral Oncogene Homolog B ( RELB). The resulting deficiency of functional RelB impairs the in…

Autoantibodies Neutralizing GM-CSF in HIV-Negative Colombian Patients Infected with Cryptococcus gattii and C. neoformans Open

Carlos A. Arango-Franco, Julián Rojas, Carolina Firacative, Mélanie Migaud, Clara Inés Agudelo , et al. · 2024

Background Cryptococcosis is a life-threatening disease caused by Cryptococcus neoformans or C. gattii . Neutralizing autoantibodies (auto-Abs) against granulocyte-macrophage colony-stimulating factor (GM-CSF) in otherwise healthy adults w…

Human inherited CCR2 deficiency underlies progressive polycystic lung disease Open

Anna‐Lena Neehus, Brenna Carey, Marija Landekic, Patricia Panikulam, Gail Deutsch , et al. · 2024

Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation Open

Quentin Riller, Boris Sorin, Charline Courteille, Duong Ho‐Nhat, Tom Le Voyer , et al. · 2024

IKKα, encoded by CHUK , is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. Absence of IKKα cause fetal encasement syndrome in human, fatal in utero, while an impaired …

Role of IL-27 in Epstein–Barr virus infection revealed by IL-27RA deficiency Open

Emmanuel Martin, Sarah Winter, Cécile Garcin, Kay Tanita, Akihiro Hoshino , et al. · 2024

Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB1*15:02 or 16:02 individuals Open

Jessica N. Peel, Rui Yang, Tom Le Voyer, Adrian Gervais, Jérémie Rosain , et al. · 2024

BACKGROUNDWeakly virulent environmental mycobacteria (EM) can cause severe disease in HLA-DRB1*15:02 or 16:02 adults harboring neutralizing anti-IFN-γ autoantibodies (nAIGAs). The overall prevalence of nAIGAs in the general population is u…

Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency Open

Jérémie Rosain, Ayça Kıykım, Alexandre Michev, Yasemin Kendir Demirkol, Darawan Rinchai , et al. · 2024

Purpose Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Twenty-two genes with products involved in the production of, or response to, IFN-γ and variants of which underlie MSMD have been id…

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children Open

Paul Bastard, Adrian Gervais, Maki Taniguchi, Liisa Saare, Karita Särekannu , et al. · 2024

We found that 19 (10.4%) of 183 unvaccinated children hospitalized for COVID-19 pneumonia had autoantibodies (auto-Abs) neutralizing type I IFNs (IFN-α2 in 10 patients: IFN-α2 only in three, IFN-α2 plus IFN-ω in five, and IFN-α2, IFN-ω plu…

Human inherited CCR2 deficiency underlies progressive polycystic lung disease Open

Anna‐Lena Neehus, Brenna Carey, Marija Landekic, Patricia Panikulam, Gail Deutsch , et al. · 2023

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency Open

Tom Le Voyer, Audrey V. Parent, Xian Liu, Axel Cederholm, Adrian Gervais , et al. · 2023

Genetic inhibition of CARD9 accelerates the development of atherosclerosis in mice through CD36 dependent-defective autophagy Open

Yujiao Zhang, Marie Vandestienne, Jean‐Rémi Lavillegrand, Jérémie Joffre, Icía Santos‐Zas , et al. · 2023

Caspase recruitment-domain containing protein 9 (CARD9) is a key signaling pathway in macrophages but its role in atherosclerosis is still poorly understood. Global deletion of Card9 in Apoe -/- mice as well as hematopoietic deletion in Ld…

Autoantibodies Neutralizing Type I IFNs in the Bronchoalveolar Lavage of at Least 10% of Patients During Life-Threatening COVID-19 Pneumonia Open

Quentin Philippot, Arnaud Fekkar, Adrian Gervais, Tom Le Voyer, L.S. Boers , et al. · 2023

Inherited human ZNF341 deficiency Open

Vivien Béziat, Claire Fieschi, Mana Momenilandi, Mélanie Migaud, Brahim Belaid , et al. · 2023

Anti-GM-CSF Neutralizing Autoantibodies in Colombian Patients with Disseminated Cryptococcosis Open

Carlos A. Arango-Franco, Mélanie Migaud, Isabel Cristina Ramírez‐Sánchez, Karen Arango, Marcela Moncada‐Vélez , et al. · 2023

Human IL-23 is essential for IFN-γ–dependent immunity to mycobacteria Open

Quentin Philippot, Masato Ogishi, Jonathan Bohlen, Julia Puchan, Andrés A. Arias , et al. · 2023

Patients with autosomal recessive (AR) IL-12p40 or IL-12Rβ1 deficiency display Mendelian susceptibility to mycobacterial disease (MSMD) due to impaired IFN-γ production and, less commonly, chronic mucocutaneous candidiasis (CMC) due to imp…

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

Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-kB pathway Open

Tom Le Voyer, Adrian Gervais, Jérémie Rosain, Audrey Parent, Axel Cederholm , et al. · 2023

Patients with inborn errors of the alternative NF-κB pathway have low thymic AIRE expression, leading to the development of auto-Abs neutralizing type I IFNs, and severe viral diseases.

Genetic inhibition of CARD9 accelerates the development of experimental atherosclerosis through CD36 dependent-defective autophagy Open

Yujiao Zhang, Marie Vandestienne, Jean‐Rémi Lavillegrand, Jérémie Joffre, Icía Santos‐Zas , et al. · 2022

Macrophage-mediated innate immune responses contribute to the initiation, progression and complications of atherosclerosis. However, the underlying pathways linking activation of macrophages to atherosclerotic plaque develoment are still p…

Anti-GM-CSF neutralizing autoantibodies in Colombian patients with disseminated cryptococcosis Open

Carlos A. Arango-Franco, Mélanie Migaud, Isabel Cristina Ramírez‐Sánchez, Karen Arango, Marcela Moncada‐Vélez , et al. · 2022

Background. Cryptococcosis is a potentially life-threatening fungal disease caused by encapsulated yeasts of the genus Cryptococcus , mostly C. neoformans or C. gattii. Cryptococcal meningitis is the most frequent clinical manifestation in…

Genetic inhibition of CARD9 accelerates the development of experimental atherosclerosis through CD36 dependent-defective autophagy Open

Yujiao Zhang, Marie Vandestienne, Jean‐Rémi Lavillegrand, Jérémie Joffre, Icía Santos‐Zas , et al. · 2022

Macrophage-mediated innate immune responses contribute to the initiation, progression and complications of atherosclerosis. However, the underlying pathways linking activation of macrophages to atherosclerotic plaque develoment are still p…

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…

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…

Case Report: Invasive Cryptococcosis in French Guiana: Immune and Genetic Investigation in Six Non-HIV Patients Open

Jeanne Goupil de Bouillé, Loïc Epelboin, Fanny Hénaff, Mélanie Migaud, Philippe Abboud , et al. · 2022

Objectives We describe the clinical, mycological, immunological, and genetic characteristics of six HIV-negative patients presenting with invasive cryptococcosis. Methods Patients with cryptococcosis without any of the classical risk facto…

Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature Open

Olivier Paccoud, Nicolas Vignier, Mohammed Boui, Mélanie Migaud, P. Vironneau , et al. · 2022

Phaeohyphomycoses comprise a heterogeneous group of fungal infections caused by dematiaceous fungi and have primarily been reported in patients with underlying acquired immunodeficiencies, such as hematological malignancies or solid-organ …

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…

Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association Open

M. Martinot, Anne‐Sophie Korganow, Mathieu Wald, J. Second, E. Birckel , et al. · 2021

Purpose Heterozygous missense STAT1 mutations leading to a gain of function (GOF) are the most frequent genetic cause of chronic mucocutaneous candidiasis (CMC). We describe the case of a patient presenting a new GOF mutation of STAT1 with…

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