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