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Article

Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan.

British journal of haematology - 1 Feb 2002

Suga Naohiro, Takada Hidetoshi, Nomura Akihiko, Ohga Shouichi, Ishii Eiichi, Ihara Kenji, Ohshima Koichi, Hara Toshiro

Abstract excerpt

The perforin gene was analysed in 15 Japanese patients with primary haemophagocytic lymphohistiocytosis (HLH). Perforin gene defects were found in two out of eight patients with familial HLH (FHL), and one out of seven without affected siblings. Four novel mutations were identified. Compound heterozygous mutations (one FHL and one sporadic HLH) and only one allele mutation (one FHL) were defined. Flow cytometry...

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Source

Identifiers

PMID: 11841437
DOI: 10.1046/j.1365-2141.2002.03266.x

Genes

FHL2

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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