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XIAP Q423P polymorphism and susceptibility to childhood hemophagocytic lymphohistiocytosis.
Pediatr Blood Cancer
February 2014
Department of Pediatrics, First Affiliated Hospital, Guangxi Medical University, Nanning, China.
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever.
Arthritis Rheum
November 2009
Interdisciplinary Research Centre of Autoimmune Diseases, and University of Eastern Piedmont, Novara, Italy.
Objective: Hereditary periodic fever syndromes (HPFs) develop as a result of uncontrolled activation of the inflammatory response, with a substantial contribution from interleukin-1beta or tumor necrosis factor alpha (TNFalpha). The HPFs include familial Mediterranean fever (FMF), hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), TNF receptor-associated syndrome (TRAPS), and cryopyrinopathies, which are attributable to mutations of the MEFV, MVK, TNFRSF1A, and CIAS1 genes, respectively. However, in many patients, the mutated gene has not been determined; therefore, the condition in these patients with an HPF-like clinical picture is referred to as idiopathic periodic fever (IPF).
View Article and Find Full Text PDFIdentification of polymorphisms in the XIAP gene and analysis of association with lung cancer risk in a Korean population.
Cancer Genet Cytogenet
January 2008
Cancer Research Institute, School of Medicine, Kyungpook National University, Dong In 2Ga 101, Daegu, 700-422, Republic of Korea.
The X-linked inhibitor of apoptosis protein (XIAP) is a potent mammalian IAP, and has been shown to play an important role in development and progression of cancer. Polymorphisms in the XIAP gene may influence XIAP production or activity, thereby modulating susceptibility to lung cancer. To test this hypothesis, we first screened for polymorphisms in the XIAP gene by direct sequencing of genomic DNA samples from 27 healthy Korean women and then performed a case-control study to evaluate the association between the polymorphisms and the risk of lung cancer.
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