High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.

@article{Tanaka2011HighIO,
  title={High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.},
  author={Naoko Tanaka and Kazushi Izawa and Megumu K Saito and Mio Sakuma and Koichi Oshima and Osamu Ohara and Ryuta Nishikomori and Takeshi Morimoto and Naotomo Kambe and Raphaela T Goldbach-Mansky and Ivona Aksentijevich and Genevi{\`e}ve de Saint Basile and B{\'e}n{\'e}dicte Neven and Mari{\"e}lle E van Gijn and Joost Frenkel and Juan I Ar{\'o}stegui and Jordi Yag{\"u}e and R. Gil – Merino and Mercedes Ib{\'a}{\~n}ez and Alessandra Pontillo and Hidetoshi Takada and Tomoyuki Imagawa and Tomoki Kawai and Takahiro Yasumi and Tatsutoshi Nakahata and Toshio Heike},
  journal={Arthritis and rheumatism},
  year={2011},
  volume={63 11},
  pages={3625-32}
}
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 this disease, conventional genetic analyses fail to detect disease-causing mutations in ∼40% of patients. Since somatic NLRP3 mosaicism has been detected in several mutation-negative NOMID/CINCA syndrome… CONTINUE READING
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