Deficiency of interleukin-1 receptor antagonist
DIRA is typically inherited in an autosomal recessive pattern. About one-third of patients with this disease are born prematurely or small for gestational age. DIRA is caused by loss of function mutations in the IL1RN gene, which codes for the interleukin-1-receptor antagonist, with subsequent loss of inhibition of the IL-1 receptor. This in turn causes signal activation by IL-1, leading to downstream systemic inflammation in the skin and bones.
M04.8 – Other autoinflammatory syndromes
773702002 – Sterile multifocal osteomyelitis with periostitis and pustulosis
Differential Diagnosis & Pitfalls