Rheumatology Medical News about autoinflammatory disease;deficiency of the Interleukin-1-Receptor antagonist

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An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
New England Journal of Medicine, 06/08/09

Aksentijevich I et al. – The term deficiency of the IL1–receptor antagonist (DIRA) denote the autosomal recessive autoinflammatory disease caused by mutations affecting IL-1–receptor antagonist (IL1RN). The absence of interleukin-1–receptor antagonist allows unopposed action of IL-1, resulting in life-threatening systemic inflammation with skin and bone involvement.

Methods

Study reports a disorder caused by mutations of IL1RN, with prominent involvement of skin and bone
9 children from 6 families who had neonatal onset of sterile multifocal osteomyelitis, periostitis, and pustulosis were studied
Test for the presence of mutations and changes in proteins and their function in IL-1–pathway genes including IL1RN was conducted

Results

Homozygous mutations of IL1RN in 9 affected children, from 1 family from Canada, 3 families from Netherlands, and 1 consanguineous family from Lebanon were identified
A nonconsanguineous patient from Puerto Rico was homozygous for a genomic deletion that includes IL1RN and 5 other IL-1–family members
At least 3 of the mutations were founder mutations; heterozygous carriers were asymptomatic, with no cytokine abnormalities in vitro
IL1RN mutations resulted in a truncated protein that is not secreted, thereby rendering cells hyperresponsive to IL-1β stimulation
Pts treated with anakinra responded rapidly

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