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Article

Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis

3 Dec 1999

Abstract excerpt

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, rapidly fatal, autosomal recessive immune disorder characterized by uncontrolled activation of T cells and macrophages and overproduction of inflammatory cytokines. Linkage analyses indicate that FHL is genetically heterogeneous and linked to 9q21.3-22, 10q21-22, or another as yet undefined locus. Sequencing of the coding regions of the perforin gene of...

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PMID: 10583959
DOI: 10.1126/science.286.5446.1957

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