CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature—a rare case with a novel mutation

Author:

Cavalcante Miria Paula V.,Brunelli Juliana B.,Miranda Clarissa C.,Novak Glaucia V.,Malle Louise,Aikawa Nadia E.,Jesus Adriana A.,Silva Clovis Artur

Funder

Conselho Nacional do Desenvolvimento Científico e Tecnológico

Federico Foundation

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference14 articles.

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2. Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CR, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother K, Hildebrand PW, Brogan P, Kruger E, Aksentijevich I, Goldbach-Mansky R (2015) Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest 125:4196–4211. doi: 10.1172/JCI81260

3. Goldbach-Mansky R (2012) Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1. Clin Exp Immunol 167:391–404. doi: 10.1111/j.1365-2249.2011.04533.x

4. Gomes AV (2013) Genetics of proteasome diseases. Scientifica 2013:637629. doi: 10.1155/2013/637629

5. Gonul M, Cevirgen Cemil B, Keseroglu HO, Kaya Akis H (2014) New described dermatological disorders. Biomed Res Int 2014:616973. doi: 10.1155/2014/616973

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