Article
Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP.
PLoS biology - 1 Nov 2011
Palendira Umaimainthan, Low Carol, Chan Anna, Hislop Andrew D, Ho Edwin, Phan Tri Giang, Deenick Elissa, Cook Matthew C, Riminton D Sean, Choo Sharon, Loh Richard, Alvaro Frank, Booth Claire, Gaspar H Bobby, Moretta Alessandro, Khanna Rajiv, Rickinson Alan B, Tangye Stuart G
Abstract excerpt
X-linked lymphoproliferative disease (XLP) is a primary immunodeficiency caused by mutations in SH2D1A which encodes SAP. SAP functions in signalling pathways elicited by the SLAM family of leukocyte receptors. A defining feature of XLP is exquisite sensitivity to infection with EBV, a B-lymphotr...
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