Article
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
The Journal of allergy and clinical immunology - 1 Apr 2019
Dorjbal Batsukh, Stinson Jeffrey R, Ma Chi A, Weinreich Michael A, Miraghazadeh Bahar, Hartberger Julia M, Frey-Jakobs Stefanie, Weidinger Stephan, Moebus Lena, Franke Andre, Schäffer Alejandro A, Bulashevska Alla, Fuchs Sebastian, Ehl Stephan, Limaye Sandhya, Arkwright Peter D, Briggs Tracy A, Langley Claire, Bethune Claire, Whyte Andrew F, Alachkar Hana, Nejentsev Sergey, DiMaggio Thomas, Nelson Celeste G, Stone Kelly D, Nason Martha, Brittain Erica H, Oler Andrew J, Veltri Daniel P, Leahy T Ronan, Conlon Niall, Poli Maria C, Borzutzky Arturo, Cohen Jeffrey I, Davis Joie, Lambert Michele P, Romberg Neil, Sullivan Kathleen E, Paris Kenneth, Freeman Alexandra F, Lucas Laura, Chandrakasan Shanmuganathan, Savic Sinisa, Hambleton Sophie, Patel Smita Y, Jordan Michael B, Theos Amy, Lebensburger Jeffrey, Atkinson T Prescott, Torgerson Troy R, Chinn Ivan K, Milner Joshua D, Grimbacher Bodo, Cook Matthew C, Snow Andrew L
Abstract excerpt
BACKGROUND: Caspase activation and recruitment domain 11 (CARD11) encodes a scaffold protein in lymphocytes that links antigen receptor engagement with downstream signaling to nuclear factor κB, c-Jun N-terminal kinase, and mechanistic target of rapamycin complex 1. Germline CARD11 mutations cause several distinct primary immune disorders in human subjects, including severe combined immune deficiency (biallelic...
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