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Article

Frequent mutations in SH2D1A (XLP) in males presenting with high-grade mature B-cell neoplasms.

Pediatric blood & cancer - 1 Sept 2013

Sandlund J T, Shurtleff S A, Onciu M, Horwitz E, Leung W, Howard V, Rencher R, Conley M E

Abstract excerpt

X-linked lymphoproliferative syndrome (XLP) is caused by mutations in SH2D1A, and is associated with overwhelming infectious mononucleosis, aplastic anemia, hypogammaglobulinemia, and B-cell lymphomas. However, the frequency of SH2D1A mutations in males who present with B NHL is unknown. Five cases of XLP were diagnosed among 158 males presenting with B NHL (approximately 3.2%). Four of the patients had two...

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Identifiers

PMID: 23589280
DOI: 10.1002/pbc.24525
PMCID: PMC4758190

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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