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A Novel Mutation in the Interleukin-1 Receptor Antagonist Associated with Intrauterine Disease Onset
(Academic Press Inc Elsevier Science, 2012)
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 ...