Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan
نویسندگان
چکیده
منابع مشابه
Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.
Perforin gene (PRF1) mutations cause the primary form of hemophagocytic lymphohistiocytosis (HLH). We report a genetic defect of PRF1 in a 62-year-old Japanese man with recurrent episodes of HLH. Sequencing of PRF1 from both peripheral blood mononuclear cells and nail clippings showed compound heterozygous mutation, including deletion of two base pairs at codons 1090 and 1091 (1090-1091delCT) a...
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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 lymphohistiocy...
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Haemophagocytic lymphohistiocytosis (HLH) describes a clinical syndrome of hyperinflammation resulting in an uncontrolled and ineffective immune response. It may develop subsequent to a number of recognised genetic mutations or in association with infection, malignancy, autoinflammatory or metabolic conditions. Even with the published diagnostic criteria it can be difficult to make the diagnosi...
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1 of 2 DESCRIPTION A 24-year-old female presented with fever and abdominal pain for 1 week. Her medical history included seizures secondary to tuberous sclerosis controlled with lamotrigine and Crohn’s disease in remission for the last 2 years treated with 6-mercaptopurine. On presentation, she was found to have pancytopenia and elevated liver enzymes. Physical examination was signifi cant for ...
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Haemophagocytic lymphohistiocytosis (HLH) is a potentially fatal condition in which abnormal activation of the immune system results in haemophagocytosis, inflammation and tissue damage. This results in a variety of signs and symptoms but most commonly fever, lymphadenopathy, splenomegaly, cytopenias, hyperferritinaemia and hypertriglyceridaemia. There are multiple reports of acquired HLH devel...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2003
ISSN: 0007-1048
DOI: 10.1046/j.1365-2141.2003.04298.x