Abstract
CARD11 functions as a key signaling scaffold that controls antigen-induced lymphocyte activation during the adaptive immune response. Somatic mutations in CARD11 are frequently found in Non-Hodgkin lymphoma, and at least three classes of germline CARD11 mutations have been described as the basis for primary immunodeficiency. In this review, we summarize our current understanding of how CARD11 signals, how its activity is regulated, and how mutations bypass normal regulation to cause disease.
Keywords:
B cell receptor; Bcl10; CARD11; MALT1; T cell receptor; lymphoma; primary immunodeficiency.
Publication types
-
Research Support, N.I.H., Extramural
-
Review
MeSH terms
-
Adaptive Immunity / genetics*
-
B-Cell CLL-Lymphoma 10 Protein / genetics
-
CARD Signaling Adaptor Proteins / genetics*
-
Gene Expression Regulation*
-
Genetic Predisposition to Disease / genetics*
-
Guanylate Cyclase / genetics*
-
Humans
-
Lymphocyte Activation / genetics
-
Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein / genetics
-
Mutation*
-
Signal Transduction / genetics*
Substances
-
B-Cell CLL-Lymphoma 10 Protein
-
CARD Signaling Adaptor Proteins
-
Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein
-
CARD11 protein, human
-
Guanylate Cyclase