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Article

A91V perforin variation in healthy subjects and FHLH patients.

International journal of immunogenetics - 1 Apr 2006

Busiello R, Fimiani G, Miano M G, Aricò M, Santoro A, Ursini M V, Pignata C

Abstract excerpt

Familial haemophagocytic lymphohistiocytosis (FHLH) is a heterogeneous autosomal recessive disorder characterized by hyperactivation of monocytes/macrophages. Perforin (PRF1) gene alterations have been documented in 40% of patients with FHLH. Although several mutations have been identified, a clear correlation between the individual molecular alteration and the phenotypic expression of the disease is still...

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Source

Identifiers

PMID: 16611257
DOI: 10.1111/j.1744-313X.2006.00582.x

Genes

PRF1

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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