Article
SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients.
Human genetics - 1 Nov 1999
Yin L, Ferrand V, Lavoué M F, Hayoz D, Philippe N, Souillet G, Seri M, Giacchino R, Castagnola E, Hodgson S, Sylla B S, Romeo G
Abstract excerpt
X-linked lymphoproliferative disease (XLP) is a rare inherited immunodeficiency to Epstein-Barr virus (EBV). The gene responsible for XLP has recently been identified as the four-exon SH2D1A gene encoding a 128-amino-acid protein that contains an SH2-domain. Functional studies indicate the SH2D1A protein acts as a regulator of at least two signal transduction pathways initiated by the cell surface molecules SLAM...
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