A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset.
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ABSTRACT:
SUBMITTER: Altiok E
PROVIDER: S-EPMC3463868 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
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A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset.
Altiok Ender E Aksoy Figen F Perk Yıldız Y Taylan Fulya F Kim Peter W PW Ilıkkan Barbaros B Asal Gülten Turkkani GT Goldbach-Mansky Raphaela R Sanal Ozden O
Clinical immunology (Orlando, Fla.) 20120816 1
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 novel Q119X mutation would result in a nonfunctional protein by impairing the abilit ...[more]
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