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High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study

✍ Scribed by Naoko Tanaka; Kazushi Izawa; Megumu K. Saito; Mio Sakuma; Koichi Oshima; Osamu Ohara; Ryuta Nishikomori; Takeshi Morimoto; Naotomo Kambe; Raphaela Goldbach-Mansky; Ivona Aksentijevich; Geneviève de Saint Basile; Bénédicte Neven; Mariëlle van Gijn; Joost Frenkel; Juan I. Aróstegui; Jordi Yagüe; Rosa Merino; Mercedes Ibañez; Alessandra Pontillo; Hidetoshi Takada; Tomoyuki Imagawa; Tomoki Kawai; Takahiro Yasumi; Tatsutoshi Nakahata; Toshio Heike

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 177 KB
Volume: 63
Category: Article
ISSN: 0004-3591
DOI: 10.1002/art.30512

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Somatic mosaicism of CIAS1 in a patient

Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome

✍ Megumu Saito; Akihiro Fujisawa; Ryuta Nishikomori; Naotomo Kambe; Mami Nakata-Hi 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 430 KB 👁 2 views

## Abstract Chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) is a severe inflammatory disease that was recently found to be associated with mutations in __CIAS1__. However, __CIAS1__ mutations have been detected in only half of CINCA syndrome patients, and it remains unc