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Article

Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients.

The Journal of biological chemistry - 28 Sept 2001

Morra M, Simarro-Grande M, Martin M, Chen A S, Lanyi A, Silander O, Calpe S, Davis J, Pawson T, Eck M J, Sumegi J, Engel P, Li S C, Terhorst C

Abstract excerpt

X-linked lymphoproliferative disease (XLP) is a primary immunodeficiency characterized by extreme susceptibility to Epstein-Barr virus. The XLP disease gene product SH2D1A (SAP) interacts via its SH2 domain with a motif (TIYXXV) present in the cytoplasmic tail of the cell-surface receptors CD150/SLAM, CD84, CD229/Ly-9, and CD244/2B4. Characteristically, the SH2D1A three-pronged interaction with Tyr(281) of CD150...

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Identifiers

PMID: 11477068
DOI: 10.1074/jbc.M101305200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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