Abstract
Purpose Deficiency of interleukin-1 receptor antagonist (DIRA) is a rare life-threatening autoinflammatory disease caused by autosomal recessive mutations in IL1RN. DIRA presents clinically with early onset generalized pustulosis, multifocal osteomyelitis, and elevation of acute phase reactants. We evaluated and treated an antibiotic-unresponsive patient with presumed DIRA with recombinant IL-1Ra (anakinra). The patient developed anaphylaxis to anakinra and was subsequently desensitized.
Highlights
Deficiency of interleukin-1-receptor antagonist (DIRA) is a rare autoinflammatory disease clinically characterized by early-onset generalized pustulosis, multifocal osteomyelitis and elevation of acute-phase reactants
DIRA is caused by autosomal recessive loss of function mutations in IL1RN
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Summary
Deficiency of interleukin-1-receptor antagonist (DIRA) is a rare autoinflammatory disease clinically characterized by early-onset generalized pustulosis, multifocal osteomyelitis and elevation of acute-phase reactants. DIRA is caused by autosomal recessive loss of function mutations in IL1RN. Seven DIRA causing mutations have been described, including one 175Kb genomic deletion, 4 premature stopcodons, 1 inframe deletion, and 1 missense mutation
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