Article
A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset.
Clinical immunology (Orlando, Fla.) - 1 Oct 2012
Altiok Ender, Aksoy Figen, Perk Yıldız, Taylan Fulya, Kim Peter W, Ilıkkan Barbaros, Asal Gülten Turkkani, Goldbach-Mansky Raphaela, Sanal Ozden
Abstract excerpt
Deficiency of the IL-1 receptor antagonist (DIRA) is a recently described rare autoinflammatory disease, caused by loss of function mutations in IL1RN leading to the unopposed activation of the IL-1 pathway. We describe a novel nonsense mutation in the IL1RN gene, associated with early intrauterine onset, death and multiorgan involvement in a prematurely born baby. The protein prediction model indicated that the...
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