Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition
- Goldbach-Mansky, Raphaela
- Dailey, Natalie J.
- Canna, Scott W.
- Gelabert, Ana
- Jones, Janet
- Rubin, Benjamin I.
- Kim, H. Jeffrey
- Brewer, Carmen
- Zalewski, Christopher
- Wiggs, Edythe
- Hill, Suvimol
- Turner, Maria L.
- Karp, Barbara I.
- Aksentijevich, Ivona
- Pucino, Frank
- Penzak, Scott R.
- Haverkamp, Margje H.
- Stein, Leonard
- Adams, Barbara S.
- Moore, Terry L.
- Fuhlbrigge, Robert C.
- Shaham, Bracha
- Jarvis, James N.
- O'Neil, Kathleen
- Vehe, Richard K.
- Beitz, Laurie O.
- Gardner, Gregory
- Hannan, William P.
- Warren, Robert W.
- Horn, William
- Cole, Joe L.
- Paul, Scott M.
Publication date
January 2006
DOIAbstract
Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation. Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation
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