Different Phenotypic Presentations of X-Linked Lymphoproliferative Disease in Siblings with Identical Mutations
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-019-00649-w
Abstract: To the Editor, X-linked lymphoproliferative disease (XLP1) was first described in the 1970s [1] and is a rare primary immunodeficiency (PID) caused by mutations in the SH2D1A gene. This gene encodes the SLAM-associated protein (SAP)… read more here.
Keywords: linked lymphoproliferative; lymphoproliferative disease; sh2d1a gene; family ... See more keywords
Potential pathogenic mechanism of type 1 X-linked lymphoproliferative syndrome caused by a mutation of SH2D1A gene in an infant: A case report
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000030951
Abstract: 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… read more here.
Keywords: xlp; mutation; sh2d1a gene; pi3k ... See more keywords