A Novel Perforin Gene Mutation in a Japanese Family with Hemophagocytic Lymphohistiocytosis |
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Authors: | Ikuyo Ueda Shigeyoshi Hibi Tohru Sugimoto Akira Morimoto Urara Kohdera Tohru Inaba Ken Yamamoto Eiichi Ishii Shinsaku Imashuku |
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Institution: | Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. u194@koto.kpu-m.ac.jp |
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Abstract: | A 4-month-old girl with clinical features of hemophagocytic lymphohistiocytosis (HLH) was successfully treated with immunochemotherapy but died at the age of 1 year and 3 months, before hematopoietic stem cell transplantation could be performed. Her family history showed death during infancy of the eldest sister, suggesting a diagnosis of familial HLH (FHL). Direct sequencing of the DNA extracted from the patient's spleen tissue obtained at autopsy revealed a novel perforin gene mutation: a homozygous 1289G insertion (Asp430 frameshift and termination at amino acid residue 457), which has not previously been reported in FHL patients. |
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Keywords: | Familial hemophagocytic lymphohistiocytosis Perforin Mutation Natural killer activity |
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