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Article

Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.

Blood - 24 Nov 2011

Zhang Kejian, Jordan Michael B, Marsh Rebecca A, Johnson Judith A, Kissell Diane, Meller Jarek, Villanueva Joyce, Risma Kimberly A, Wei Qian, Klein Peter S, Filipovich Alexandra H

Abstract excerpt

Familial hemophagocytic lymphohistiocytosis (HLH) is a rare primary immunodeficiency disorder characterized by defects in cell-mediated cytotoxicity that results in fever, hepatosplenomegaly, and cytopenias. Familial HLH is well recognized in children but rarely diagnosed in adults. We conducted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21881043
DOI: 10.1182/blood-2011-07-370148
PMCID: PMC3228496

Genes

PRF1
STXBP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21881043-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.PMID 21881043Read ↗

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