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Article

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

Journal of medical genetics - 1 Jan 2008

Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter J-I, Griffiths G, Santoro A, Filipovich A, Aricò M

Abstract excerpt

BACKGROUND: PRF1 gene mutations are associated with familial haemophagocytic lymphohistiocytosis type 2 (FHL2). Genotype-phenotype analysis, previously hampered by limited numbers of patients, was for the first time performed by data pooling from five large centres worldwide. PATIENTS AND METHODS: Members of the Histiocyte Society were asked to report cases of FHL2 on specific forms. Data were pooled in a common...

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Source

Identifiers

PMID: 17873118
DOI: 10.1136/jmg.2007.052670

Genes

FHL2
PRF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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