Deficiency of interleukin 1 receptor antagonist (DIRA) is a newly described autosomal recessive autoinflammatory disease in which absence of interleukin 1 (IL-1) receptor antagonist allows unopposed IL-1 activation, resulting in life-threatening systemic inflammation with prominent skin and bone involvement. We present a case of chronic cutaneous pustulosis treated with anakinra, a recombinant IL-1 receptor antagonist, resulting in rapid and significant clinical improvement.
Department of Dermatology, University of Puerto Rico, Puerto Rico (Drs Brau-Javier and Gonzales-Chavez); and Division of Cancer Epidemiology and Genetics, Genetic Epidemiology Branch, National Cancer Institute, Bethesda, Maryland (Dr Toro)Correspondence: Jorge R. Toro, MD, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Executive Plaza S, Room 7012, Rockville, MD 20892 (email@example.com).
Accepted for Publication: November 24, 2011.
Author Contributions: Dr Toro had full access to all the data in the study and all authors take responsibility for the integrity of the data. Study concept and design: Brau-Javier, Gonzales-Chavez, and Toro. Acquisition of data: Brau-Javier, Gonzales-Chavez, and Toro. Analysis and interpretation of data: Brau-Javier, Gonzales-Chavez, and Toro. Drafting of the manuscript: Brau-Javier, Gonzales-Chavez, and Toro. Critical revision of the manuscript for important intellectual content: Brau-Javier, Gonzales-Chavez, and Toro. Administrative, technical, and material support: Brau-Javier, Gonzales-Chavez, and Toro. Study supervision: Brau-Javier, Gonzales-Chavez, and Toro.
Financial Disclosure: None reported.
Funding/Support: This study was supported in part by federal funds from the Intramural programs (Division of Cancer Epidemiology and Genetics) of the National Cancer Institute.
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