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Science 3 December 1999:
Vol. 286. no. 5446, p. 1813
DOI: 10.1126/science.286.5446.1813i
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This Week in Science

Familial hemophagocytic lymphohistiocytosis (FHL) is a genetic disorder that dysregulates the immune system and leads to excesses of lymphocytes, macrophages, and inflammatory cytokines. Two genetic loci have been identified and linked to the disease. Stepp et al. (p. 1957) identified the defective gene in the 10q21-22-linked patients as the gene coding for perforin, a protein released from cytotoxic lymphocytes to kill the target cell. This finding provides insight into the biological role of perforin as a mechanism for turning off immune responses, perhaps through the elimination of antigen presenting cells or the cytotoxic T cells themselves.




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Science. ISSN 0036-8075 (print), 1095-9203 (online)