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Article

Potential pathogenic mechanism of type 1 X-linked lymphoproliferative syndrome caused by a mutation of SH2D1A gene in an infant: A case report.

Medicine - 14 Oct 2022

Wang Yanchun, Wang Yan, Lu Weimin, Tao Lvyan, Xiao Yang, Zhou Yuantao, He Xiaoli, Zhang Yu, Li Li

Abstract excerpt

BACKGROUND: X-linked lymphoproliferative syndrome (XLP) is a rare X-linked recessive inborn errors of immunity. The pathogenesis of XLP might be related to phophatidylinositol-3-kinase (PI3K)-associated pathways but insight details remain unclear. This study was to study an infant XLP-1 case caused by a mutation in SH2D1A gene, investigate the structural and functional alteration of mutant SAP protein, and...

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PMID: 36254040
DOI: 10.1097/MD.0000000000030951
PMCID: PMC9575725

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