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  1. No Access

    Article

    Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency

    The linear ubiquitin assembly complex (LUBAC) consists of HOIP, HOIL-1 and SHARPIN and is essential for proper immune responses. Individuals with HOIP and HOIL-1 deficiencies present with severe immunodeficien...

    Hirotsugu Oda, Kalpana Manthiram, Pallavi Pimpale Chavan, Eva Rieser… in Nature Immunology (2024)

  2. No Access

    Article

    Novel NF-kappa B Inhibitor Alpha Gain-of-Function Variant in an Infant with Lymphocytosis and Recurrent Serratia Bacteremia

    Lauren M. Gunderman, Takaki Asano, Jean-Laurent Casanova… in Journal of Clinical Immunology (2023)

  3. No Access

    Article

    SCID and Other Inborn Errors of Immunity with Low TRECs — the Brazilian Experience

    Severe combined immunodeficiency, SCID, is a pediatric emergency that represents the most critical group of inborn errors of immunity (IEI). Affected infants present with early onset life-threatening infection...

    Lucila Akune Barreiros, Jusley Lira Sousa… in Journal of Clinical Immunology (2022)

  4. Article

    Open Access

    X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia

    Coronavirus disease 2019 (COVID-19) exhibits a wide spectrum of clinical manifestations, ranging from asymptomatic to critical conditions. Understanding the mechanism underlying life-threatening COVID-19 is in...

    Hassan Abolhassani, Ahmad Vosughimotlagh, Takaki Asano… in Journal of Clinical Immunology (2022)

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  5. No Access

    Article

    EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation

    Coline Bret Puvilland, Bertrand Boisson, Mathieu Fusaro… in Journal of Clinical Immunology (2021)

  6. No Access

    Article

    A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

    In the present study, we report a human-inherited, impaired, adaptive immunity disorder, which predominantly manifested as a B cell differentiation defect, caused by a heterozygous IKZF3 missense variant, resulti...

    Motoi Yamashita, Hye Sun Kuehn, Kazuki Okuyama, Satoshi Okada… in Nature Immunology (2021)

  7. No Access

    Article

    Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain

    Melinda Erdős, Árpád Lányi, György Balázs… in Journal of Clinical Immunology (2021)

  8. No Access

    Article

    Autoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection

    Eric Oksenhendler, András N. Spaan, Bénédicte Neven… in Journal of Clinical Immunology (2020)

  9. Article

    Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

    DOCK2 is a guanine-nucleotide-exchange factor for Rac proteins. Activated Rac serves various cellular functions including the reorganization of the actin cytoskeleton in lymphocytes and neutrophils and product...

    Leen Moens, Mieke Gouwy, Barbara Bosch… in Journal of Clinical Immunology (2019)

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  10. No Access

    Article

    An essential role for the Zn2+ transporter ZIP7 in B cell development

    Despite the known importance of zinc for human immunity, molecular insights into its roles have remained limited. Here we report a novel autosomal recessive disease characterized by absent B cells, agammaglobu...

    Consuelo Anzilotti, David J. Swan, Bertrand Boisson… in Nature Immunology (2019)

  11. No Access

    Article

    Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency

    Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Fourteen unrelated patient...

    Bertrand Boisson, Anne Puel, Capucine Picard… in Journal of Clinical Immunology (2017)

  12. No Access

    Article

    Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency

    Interferon-γ receptor 2 (IFN-γR2) deficiency is a rare primary immunodeficiency characterized by predisposition to infections with weakly virulent mycobacteria, such as environmental mycobacteria and BCG vacci...

    Rubén Martínez-Barricarte, Orli Megged, Polina Stepensky… in Journal of Clinical Immunology (2014)

  13. No Access

    Article

    Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

    The linear ubiquitination complex (LUBAC) is poorly understood in humans. Casanova and colleagues identify natural mutations in a component of human LUBAC and use this to dissect its function in vivo and in vitro

    Bertrand Boisson, Emmanuel Laplantine, Carolina Prando, Silvia Giliani… in Nature Immunology (2012)