A novel mutation of interleukin-1 receptor antagonist (il1rn) in a dira patient from turkey: diagnosis and treatment
نویسندگان
چکیده
منابع مشابه
Turkish DIRA patient with novel IL1RN gene mutation
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 14767...
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ژورنال
عنوان ژورنال: The Turkish Journal of Pediatrics
سال: 2018
ISSN: 0041-4301
DOI: 10.24953/turkjped.2018.05.020