Turkish DIRA patient with novel IL1RN gene mutation
Articles > Article · 2015
Authors: Afig BERDELİ, B Sözeri, B Gerceker Türk, A Oz, S Mir
Pediatric Rheumatology, International, WoS, 2015, vol 13
DOI: 10.1186/1546-0096-13-s1-p181
Summary
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-1-receptor 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.