Perforin gene mutation in familial haemophagocytic lymphohistiocytosis: the first reported case from Hong Kong
| Autor: | Chi Kong Li, Frankie W T Cheng, Lee, Alex Wing Kwan Leung, Chiang Gp, Shing Mm, Imamura T, Imashuku S |
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| Rok vydání: | 2014 |
| Předmět: |
biology
business.industry Perforin Infant General Medicine Gene mutation Virology Asymptomatic Familial haemophagocytic lymphohistiocytosis Lymphohistiocytosis Hemophagocytic Transplantation Haematopoiesis Immunology Mutation biology.protein Medicine Fatal disease Hong Kong Humans Female medicine.symptom business Gene |
| Zdroj: | Hong Kong medical journal = Xianggang yi xue za zhi. 20(4) |
| ISSN: | 1024-2708 |
| Popis: | A B S T R A C T Familial haemophagocytic lymphohistiocytosis is a rare but invariably fatal disease without haematopoietic stem cell transplantation. Genetic defect identification is useful for confirming a clinical diagnosis, predicting the risk of future recurrence, and defining haemophagocytic lymphohistiocytosis predisposition in asymptomatic family members. Notably, familial haemophagocytic lymphohistiocytosis type 2 associates with mutations in the perforin gene (PRF 1), which is the most frequent subtype of familial haemophagocytic lymphohistiocytosis. Although perforin gene mutations have been described in Asians, they are largely reported from Japan. The case reported here is the first familial haemophagocytic lymphohistiocytosis type 2 patient in Hong Kong with an identified perforin gene mutation. |
| Databáze: | OpenAIRE |
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