Turkish DIRA patient with novel IL1RN gene mutation
نویسندگان
چکیده
Introduction Deficiency of the interleukin-1 receptor antagonist (DIRA)(OMIM 612852) is a recently described rare autoinflammatory and autosomal recessive disease, caused by loss of function mutations in interleukin-1receptor antagonist gene (IL1RN) leading to the unopposed activation of the IL-1 pathway. The human IL1RN gene is localized to the long arm of chromosome 2 at band 2q13 (OMIM 147679). Until now, only thirteen cases resembling this have beeen reported in the world. In this study, we described clinical and molecular date male child who had clinical signs of DIRA syndrome firstly analysed in Turkey.
منابع مشابه
Mutation screening of the IL-1 receptor antagonist gene in chronic non-bacterial osteomyelitis of childhood and adolescence.
OBJECTIVES Chronic non-bacterial osteomyelitis CNO is an inflammatory disorder of the musculoskeletal system with unknown etiology. In addition to bone inflammation, patients may present with inflammatory involvement of other tissues including, e.g., skin. Recently, a novel syndrome due to deficiency of interleukin-1 receptor antagonist (IL1RN), DIRA has been identified. Clinically the syndrome...
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