Details

Autor(en) / Beteiligte

• Aksentijevich, Ivona
• Masters, Seth L
• Ferguson, Polly J
• Dancey, Paul
• Frenkel, Joost
• van Royen-Kerkhoff, Annet
• Laxer, Ron
• Tedgård, Ulf
• Cowen, Edward W
• Pham, Tuyet-Hang
• Booty, Matthew
• Estes, Jacob D
• Sandler, Netanya G
• Plass, Nicole
• Stone, Deborah L
• Turner, Maria L
• Hill, Suvimol
• Butman, John A
• Schneider, Rayfel
• Babyn, Paul
• El-Shanti, Hatem I
• Pope, Elena
• Barron, Karyl
• Bing, Xinyu
• Laurence, Arian
• Lee, Chyi-Chia R
• Chapelle, Dawn
• Clarke, Gillian I
• Ohson, Kamal
• Nicholson, Marc
• Gadina, Massimo
• Yang, Barbara
• Korman, Benjamin D
• Gregersen, Peter K
• van Hagen, P. Martin
• Hak, A. Elisabeth
• Huizing, Marjan
• Rahman, Proton
• Douek, Daniel C
• Remmers, Elaine F
• Kastner, Daniel L
• Goldbach-Mansky, Raphaela

Titel

An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

Ist Teil von

• The New England journal of medicine, 2009-06, Vol.360 (23), p.2426-2437

Ort / Verlag

Waltham, MA: Massachusetts Medical Society

Erscheinungsjahr

2009

Link zum Volltext

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• In nine patients with neonatal onset of severe inflammatory lesions affecting mainly bone and skin and associated with mutations of IL1RN, which encodes the inhibitor of proinflammatory interleukin-1β and the interleukin-1–receptor antagonist, functional studies showed the unfettered release of proinflammatory cytokines from mononuclear cells in the absence of the interleukin-1–receptor antagonist. Treatment with the recombinant interleukin-1–receptor antagonist anakinra promptly resolved the signs and symptoms of the disorder. An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist In nine patients with neonatal onset of severe inflammatory lesions affecting mainly bone and skin and associated with mutations of IL1RN, which encodes the inhibitor of proinflammatory interleukin-1β and the interleukin-1–receptor antagonist, functional studies showed the unfettered release of proinflammatory cytokines from mononuclear cells in the absence of the interleukin-1–receptor antagonist. Autoinflammatory diseases constitute a group of genetic disorders whose main clinical features are recurrent episodes of inflammatory lesions that can affect the skin, joints, bones, eyes, gastrointestinal tract, and nervous system, in association with signs of systemic inflammation. 1 Examples of these disorders are familial Mediterranean fever 2 , 3 ; the tumor necrosis factor receptor–associated periodic syndrome 1 ; the hyper-IgD syndrome 1 ; a syndrome of pyogenic arthritis, pyoderma gangrenosum, and acne 4 ; the cryopyrin-associated periodic syndromes 5 – 7 ; and others. The cryopyrin-associated periodic syndromes are related disorders that arise from abnormalities in the control of the potent proinflammatory cytokine interleukin-1β and are . . .