A case report of a novel compound heterozygous mutation with
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DIRA is a severe, life threatening autoinflammatory condition. Deficiency of interleukin (IL)-1 receptor antagonist is a rare autoinflammatory disease with a very early onset, systemic inflammation (high level of acute-phase reactants) and marked skin and bone involvement. Blocking interleukin-1 has changed rate survival for DIRA patients.

A 7-year-old Brazilian child was reported with recurrent severe osteomyelitis episodes since the 4th month of life, associated with systemic inflammation and/or skin rash. Persistent pain on left hip and radiological osteomyelitis was observed. Corticosteroids was effective in controlling inflammation and anti-IL1 beta blocker triggered disease flare. Complete clinical control could be achieved using IL-1 receptor antagonist at the age of 8 years, where the treatment was switched to anti-IL1 receptor antagonist (IL-1Ra, anakinra) at the dose of 2 mg/kg/day. After 1 month on anakinra, marked control of skin rash, bone pain, inflammatory markers and radiological osteomyelitis was a observed. After 18 months of treatment with anakinra, corticosteroids could be discontinued and the patient was completely free of bone and skin manifestations and his laboratory examinations were persistently in the normal range.

Following the pathogenesis of DIRA, blocking both subunits of interleukin one as well as antagonizing the receptor using anakinra or rilonacept seems to be effective. There is just one report using canakinumab for the treatment of DIRA and this is the first report of disease flare using this drug.

source: https://ped-rheum.biomedcentral.com/articles/10.1186/s12969-020-00454-5