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Gene Mutation Linked to Autoinflammatory Disease

Last Updated: June 03, 2009.

Mutations in the interleukin-1 receptor antagonist gene (IL1RN) are associated with an autoinflammatory disease involving skin and bone, and symptoms can be resolved by recombinant IL1RN, according to two studies in the June 4 issue of the New England Journal of Medicine.

WEDNESDAY, June 3 (HealthDay News) -- Mutations in the interleukin-1 receptor antagonist gene (IL1RN) are associated with an autoinflammatory disease involving skin and bone, and symptoms can be resolved by recombinant IL1RN, according to two studies in the June 4 issue of the New England Journal of Medicine.

In the first study, Ivona Aksentijevich, M.D., from the National Institute of Arthritis and Musculoskeletal and Skin Diseases in Bethesda, Md., and colleagues sequenced the IL1RN gene in nine children from six families with an autoinflammatory disease characterized by neonatal onset of sterile multifocal osteomyelitis, periostitis, and pustulosis. They identified homozygous mutations in IL1RN that resulted in a truncated protein that was not secreted. Patients responded well to treatment with anakinra, a recombinant IL1RN.

In the second study, Sreelatha Reddy, Ph.D., and colleagues from the Medical College of Wisconsin in Milwaukee describe the case of a male infant with an autoinflammatory disease characterized by pustular rash, marked osteopenia, lytic bone lesions, respiratory insufficiency, and thrombosis. They identified a large homozygous deletion on chromosome 2q13, including the gene encoding IL1RN. Treatment with anakinra completely resolved the condition.

"In the absence of the interleukin-1 receptor antagonist, the activity of interleukin-1 is unopposed, thereby allowing for rampant inflammation," Charles A. Dinarello, M.D., from the University of Colorado Denver in Aurora writes in an accompanying editorial.

Authors of the first study report a financial relationship with the pharmaceutical industry.

Abstract - Aksentijevich
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Abstract - Reddy
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Editorial (subscription or payment may be required)


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