Article
Molecular and cellular pathogenesis of X-linked lymphoproliferative disease.
Immunological reviews - 1 Feb 2005
Nichols Kim E, Ma Cindy S, Cannons Jennifer L, Schwartzberg Pamela L, Tangye Stuart G
Abstract excerpt
X-linked lymphoproliferative disease (XLP) is an inherited immune defect caused by mutations in the Src homology 2 domain-containing gene 1A, which encodes the adapter protein, signaling lymphocytic activation molecule (SLAM)-associated protein (SAP). SAP is expressed in T cells, natural killer (NK) cells, and NKT cells, where it binds to the cytoplasmic domain of the surface receptor SLAM (CD150) and the related...
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