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...
Topics
- Carrier Proteins
- DNA Mutational Analysis
- Dinucleotide Repeats
- Exons
- Female
- Genetic Linkage
- Haplotypes
- Humans
- Intracellular Signaling Peptides and Proteins
- Lymphoproliferative Disorders
- Male
- Mutation
- Pedigree