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An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
Ivona Aksentijevich
1 ,
Seth L Masters ,
Polly J Ferguson ,
Paul Dancey ,
Joost Frenkel ,
Annet van Royen-Kerkhoff ,
Ron Laxer ,
Ulf Tedgård ,
Edward W Cowen ,
Tuyet-Hang Pham ,
Matthew Booty ,
Jacob D Estes ,
Netanya G Sandler ,
Nicole Plass ,
Deborah L Stone ,
Maria L Turner ,
Suvimol Hill ,
John A Butman ,
Rayfel Schneider ,
Paul Babyn ,
Hatem I El-Shanti ,
Elena Pope ,
Karyl Barron ,
Xinyu Bing ,
Arian Laurence ,
Chyi-Chia R Lee ,
Dawn Chapelle ,
Gillian I Clarke ,
Kamal Ohson ,
Marc Nicholson ,
Massimo Gadina ,
Barbara Yang ,
Benjamin D Korman ,
Peter K Gregersen ,
P Martin van Hagen ,
A Elisabeth Hak ,
Marjan Huizing ,
Proton Rahman ,
Daniel C Douek ,
Elaine F Remmers ,
Daniel L Kastner ,
Raphaela Goldbach-Mansky
Jun 04 2009
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Abstract
Autoinflammatory diseases manifest inflammation without evidence of infection, high-titer autoantibodies, or autoreactive T cells. We report a disorder caused by mutations of IL1RN, which encodes the interleukin-1-receptor antagonist, with prominent involvement of skin and bone.