Portal de Periódicos da CAPES

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

2011; Wiley; Volume: 63; Issue: 11 Linguagem: Inglês

10.1002/art.30512

1529-0131

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,

Streptococcal Infections and Treatments

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 patients, we undertook this study to determine the precise contribution of somatic NLRP3 mosaicism to the etiology of NOMID/CINCA syndrome.