Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.

ABSTRACT: Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease of early childhood characterized by nonmalignant accumulation and multivisceral infiltration of activated T lymphocytes and histiocytes (macrophages). Cytotoxic T and natural killer (NK) cell activity is markedly reduced or absent in these patients, and mutations in a lytic granule constituent, perforin, were recently identified in a number of FHL individuals. Here, we report a comprehensive survey of 34 additional patients with FHL for mutations in the coding region of the perforin gene and the relative frequency of perforin mutations in FHL. Perforin mutations were identified in 7 of the 34 families investigated. Six children were homozygous for the mutations, and one patient was a compound heterozygote.

SUBMITTER: Goransdotter Ericson K 

PROVIDER: S-EPMC1274472 | biostudies-literature | 2001 Mar

REPOSITORIES: biostudies-literature