High Incidence of NLRP3 Somatic Mosaicism in Patients With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome: Results of an International Multicenter Collaborative Study

OBJECTIVE: Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID), is a dominantly inherited systemic autoinflammatory disease. Although heterozygous germline gain-of-function NLRP3 mutations are a known cause of thi...

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Главные авторы: Tanaka, Naoko, Izawa, Kazushi, Saito, Megumu K., Sakuma, Mio, Oshima, Koichi, Ohara, Osamu, Nishikomori, Ryuta, Morimoto, Takeshi, Kambe, Naotomo, Goldbach-Mansky, Raphaela, Aksentijevich, Ivona, de Saint Basile, Geneviève, Neven, Bénédicte, van Gijn, Mariëlle, Frenkel, Joost, Aróstegui, Juan I., Yagüe, Jordi, Merino, Rosa, Ibañez, Mercedes, Pontillo, Alessandra, Takada, Hidetoshi, Imagawa, Tomoyuki, Kawai, Tomoki, Yasumi, Takahiro, Nakahata, Tatsutoshi, Heike, Toshio
Формат: Artigo
Язык:Inglês
Опубликовано: 2011
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3498501/
https://ncbi.nlm.nih.gov/pubmed/21702021
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/art.30512
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