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Article

Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.

Biochemical and biophysical research communications - 5 Mar 2000

Lappalainen I, Giliani S, Franceschini R, Bonnefoy J Y, Duckett C, Notarangelo L D, Vihinen M

Abstract excerpt

X-linked lymphoproliferative disease (XLP) is a rare and severe immune deficiency, characterized by abnormal immune responses to the Epstein-Barr virus. Recently, the gene responsible for XLP, SH2D1A, has been identified and shown to code for a small cytoplasmic protein with an SH2 domain that interacts with SLAM and 2B4, two receptorial molecules involved in signal transduction in T and NK cells, respectively. A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10694488
DOI: 10.1006/bbrc.2000.2146

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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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