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Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease

In English

Författare

  • I Lappalainen
  • S Giliani
  • R Franceschini
  • JY Bonnefoy
  • C Duckett
  • LD Notarangelo
  • Mauno Vihinen

Summary, in English

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 variety of SH2D1A gene mutations have been reported thus far in XLP males. Here we describe a single-strand conformation polymorphism assay for mutation analysis in XLP. Four novel patients with SH2D1A. mutations are described. These mutants, and the others previously reported in the literature, have been included in a Registry (SH2D1Abase) that is fully accessible on the World Wide Web. A three-dimensional model of the SH2 domain of the SH2D1A protein has been developed, based on homology with other SH2 domains. The structural consequences of disease-causing SH2D1A mutations are discussed. (C) 2000 Academic Press.

Publiceringsår

2000

Språk

Engelska

Sidor

124-130

Publikation/Tidskrift/Serie

Biochemical and Biophysical Research Communications

Volym

269

Issue

1

Dokumenttyp

Artikel i tidskrift

Förlag

Elsevier

Ämne

  • Biological Sciences

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 1090-2104