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Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease

Lappalainen, I; Giliani, S; Franceschini, R; Bonnefoy, JY; Duckett, C; Notarangelo, LD and Vihinen, Mauno LU (2000) In Biochemical and Biophysical Research Communications 269(1). p.124-130
Abstract
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... (More)
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. (Less)
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author
publishing date
type
Contribution to journal
publication status
published
subject
in
Biochemical and Biophysical Research Communications
volume
269
issue
1
pages
124 - 130
publisher
Elsevier
external identifiers
  • wos:000085918600022
  • scopus:0034607143
ISSN
1090-2104
DOI
10.1006/bbrc.2000.2146
language
English
LU publication?
no
id
972b4097-69f3-4e85-b2fb-384b2175930e (old id 3852212)
date added to LUP
2013-06-28 13:17:55
date last changed
2017-01-01 06:52:28
@article{972b4097-69f3-4e85-b2fb-384b2175930e,
  abstract     = {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.},
  author       = {Lappalainen, I and Giliani, S and Franceschini, R and Bonnefoy, JY and Duckett, C and Notarangelo, LD and Vihinen, Mauno},
  issn         = {1090-2104},
  language     = {eng},
  number       = {1},
  pages        = {124--130},
  publisher    = {Elsevier},
  series       = {Biochemical and Biophysical Research Communications},
  title        = {Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease},
  url          = {http://dx.doi.org/10.1006/bbrc.2000.2146},
  volume       = {269},
  year         = {2000},
}