Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease
B Dorjbal, JR Stinson, CA Ma, MA Weinreich… - Journal of Allergy and …, 2019 - Elsevier
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 null mutations), B-cell
expansion with nuclear factor κB and T-cell anergy (heterozygous, gain-of-function …
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 null mutations), B-cell
expansion with nuclear factor κB and T-cell anergy (heterozygous, gain-of-function …
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