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The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist.

Stenerson M, Dufendach K, Aksentijevich I, Brady J, Austin J, Reed AM. The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist. Arthritis Rheum. 2011 Dec; 63(12):4018-22.

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