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Article

Hemophagocytic lymphohistiocytosis due to germline mutations inSH2D1A, the X-linked lymphoproliferative disease gene

15 Feb 2001

Abstract excerpt

The hemophagocytic lymphohistiocytoses (HLH) comprise a heterogeneous group of disorders characterized by dysregulated activation of T cells and macrophages. Although some patients with HLH harbor perforin gene mutations, the cause of the remaining cases is not known. The phenotype of HLH bears a strong resemblance to X-linked lymphoproliferative disease (XLP), an Epstein-Barr virus (EBV)-associated...

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PMID: 11159547
DOI: 10.1182/blood.v97.4.1131

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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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