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Article

A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype

1 Sept 2004

Abstract excerpt

We read with special interest the article of Busiello and colleagues in Blood. [1][1] They described atypical features of familial hemophagocytic lymphohistiocytosis (FHLH) in a patient/family presenting 2 different perforin gene alterations: an already known homozygous A91V and a novel heterozygous

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Identifiers

PMID: 15342365
DOI: 10.1182/blood-2004-02-0733

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