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Article

Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.

Haematologica - 1 Jul 2007

Nagafuji Koji, Nonami Atsushi, Kumano Takashi, Kikushige Yoshikane, Yoshimoto Goichi, Takenaka Katsuto, Shimoda Kazuya, Ohga Shouichi, Yasukawa Masaki, Horiuchi Hisanori, Ishii Eiichi, Harada Mine

Abstract excerpt

Perforin gene (PRF1) mutations cause the primary form of hemophagocytic lymphohistiocytosis (HLH). We report a genetic defect of PRF1 in a 62-year-old Japanese man with recurrent episodes of HLH. Sequencing of PRF1 from both peripheral blood mononuclear cells and nail clippings showed compound heterozygous mutation, including deletion of two base pairs at codons 1090 and 1091 (1090-1091delCT) and...

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Identifiers

PMID: 17606450
DOI: 10.3324/haematol.11233

Genes

PRF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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