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Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations

✍ Scribed by Hamza Okur; Gunay Balta; Nurten Akarsu; Ahmet Oner; Turkan Patiroglu; Ali Bay; Tulin Sayli; Sule Unal; Aytemiz Gurgey

Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 94 KB
Volume: 32
Category: Article
ISSN: 0145-2126
DOI: 10.1016/j.leukres.2007.11.033

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Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal-recessive disease that affects young children. It presents as a severe hyperinflammatory syndrome with activated macrophages and T lymphocytes. Mutations in the perforin 1 gene (PRF1) were found in FHL-2 in 15-50% of all cases. Defect