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DIRA

[deficiency of the IL1 receptor antagonist] This term has been proposed by Aksentijevich I et al (2009) for an autosomal recessive autoinflammatory disease caused by mutations affecting IL1ra [IL1 receptor antagonist] encoded by the IL1RN gene. The mutations in the IL1ra gene result in a truncated protein that is not secreted, thereby rendering cells hyperresponsive to IL1-beta stimulation, resulting in life-threatening systemic inflammation with skin and bone involvement. Patients treated with Anakinra respond rapidly.

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