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Article

UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.

Haematologica - 1 Apr 2010

Yoon Hoi Soo, Kim Hee-Jin, Yoo Keon-Hee, Sung Ki-Woong, Koo Hong-Hoe, Kang Hyoung Jin, Shin Hee Young, Ahn Hyo Seop, Kim Ji-Yoon, Lim Young-Tak, Bae Keun-Wook, Lee Ki-O, Shin Ji-Sook, Lee Seung-Tae, Chung Hae-Sun, Kim Sun-Hee, Park Chan-Jeoung, Chi Hyun-Sook, Im Ho-Joon, Seo Jong Jin

Abstract excerpt

BACKGROUND: Familial hemophagocytic lymphohistiocytosis is a fatal disease characterized by immune dysregulation from defective function of cytotoxic lymphocytes. Three causative genes have been identified for this autosomal recessive disorder (PRF1, UNC13D, and STX11). We investigated the molecular genetics of familial hemophagocytic lymphohistiocytosis in Korea. DESIGN AND METHODS: Pediatric patients who...

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Source

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Identifiers

PMID: 20015888
DOI: 10.3324/haematol.2009.016949
PMCID: PMC2857192

Genes

PRF1
STX11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.PMID 20015888Read ↗

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