Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP.

Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP.

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-lymphotropi...

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Main Authors: Umaimainthan Palendira, Carol Low, Anna Chan, Andrew D Hislop, Edwin Ho, Tri Giang Phan, Elissa Deenick, Matthew C Cook, D Sean Riminton, Sharon Choo, Richard Loh, Frank Alvaro, Claire Booth, H Bobby Gaspar, Alessandro Moretta, Rajiv Khanna, Alan B Rickinson, Stuart G Tangye
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-11-01
Series:PLoS Biology
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22069374/?tool=EBI

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