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Article

Perforin Gene Analaysis in an Iranian Family with Familial Hemophagocytic Lymphohistiocytosis

Iranian journal of immunology : IJI - 1 Jun 2007

Galehdari Hamid, Mohammadi Ebrahim, Andashti Behnaz, Naderi Ali, Molavi Mohammad Ali

Abstract excerpt

Perforin gene (PRF1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (FHL), an immune disorder of infancy and early childhood. Cytotoxic T and natural killer (NK) cell activities are remarkably reduced or absent in FHL patients. We report the first cases of familial hemophagocytic lymphohistiocytosis in an Iranian family with two siblings. Exons 2 and 3 of the...

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Source

Identifiers

PMID: 17652853
DOI: 10.22034/iji.2007.17189

Genes

PRF1

Provenance

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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