A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset
E Altiok, F Aksoy, Y Perk, F Taylan, PW Kim, B Ilıkkan… - Clinical …, 2012 - Elsevier
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 ability of the IL-1Ra to bind …
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 ability of the IL-1Ra to bind …