Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN
2015
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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