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

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  1. 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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  2. 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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