Title

The abnormal gene in X-linked lymphoproliferative syndrome

UMMS Affiliation

Department of Pediatrics; Program in Molecular Medicine

Publication Date

1999-8

Document Type

Article

Subjects

Carrier Proteins; Cloning, Molecular; *Genetic Linkage; Humans; *Intracellular Signaling Peptides and Proteins; Lymphoproliferative Disorders; Mutation; *X Chromosome; *src Homology Domains

Disciplines

Immunology and Infectious Disease | Pediatrics

Abstract

The gene defect responsible for X-linked lymphoproliferative syndrome, SH2D1A (SH2-domain-containing gene 1A), was recently cloned. This gene encodes a small protein of 128 amino acids containing a single SH2 domain, which is thought to play an important role in signal transduction in activated T cells. The definition of SH2D1A protein function will provide insight into the pathogenesis of fatal Epstein-Barr virus infection, lymphomas, Hodgkins disease, immunodeficiency, aplastic anemia and lymphohistiocytic disorders that characterize the syndrome.

DOI of Published Version

10.1016/S0952-7915(99)80072-7

Source

Curr Opin Immunol. 1999 Aug;11(4):431-4. Link to article on publisher's site

Journal/Book/Conference Title

Current opinion in immunology

Related Resources

Link to Article in PubMed

PubMed ID

10448142

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