<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Tanaka, Naoko</style></author><author><style face="normal" font="default" size="100%">Izawa, Kazushi</style></author><author><style face="normal" font="default" size="100%">Saito, Megumu K</style></author><author><style face="normal" font="default" size="100%">Sakuma, Mio</style></author><author><style face="normal" font="default" size="100%">Oshima, Koichi</style></author><author><style face="normal" font="default" size="100%">Ohara, Osamu</style></author><author><style face="normal" font="default" size="100%">Nishikomori, Ryuta</style></author><author><style face="normal" font="default" size="100%">Morimoto, Takeshi</style></author><author><style face="normal" font="default" size="100%">Kambe, Naotomo</style></author><author><style face="normal" font="default" size="100%">Goldbach-Mansky, Raphaela</style></author><author><style face="normal" font="default" size="100%">Aksentijevich, Ivona</style></author><author><style face="normal" font="default" size="100%">de Saint Basile, Geneviève</style></author><author><style face="normal" font="default" size="100%">Neven, Bénédicte</style></author><author><style face="normal" font="default" size="100%">van Gijn, Mariëlle</style></author><author><style face="normal" font="default" size="100%">Frenkel, Joost</style></author><author><style face="normal" font="default" size="100%">Aróstegui, Juan I</style></author><author><style face="normal" font="default" size="100%">Yagüe, Jordi</style></author><author><style face="normal" font="default" size="100%">Merino, Rosa</style></author><author><style face="normal" font="default" size="100%">Ibañez, Mercedes</style></author><author><style face="normal" font="default" size="100%">Pontillo, Alessandra</style></author><author><style face="normal" font="default" size="100%">Takada, Hidetoshi</style></author><author><style face="normal" font="default" size="100%">Imagawa, Tomoyuki</style></author><author><style face="normal" font="default" size="100%">Kawai, Tomoki</style></author><author><style face="normal" font="default" size="100%">Yasumi, Takahiro</style></author><author><style face="normal" font="default" size="100%">Nakahata, Tatsutoshi</style></author><author><style face="normal" font="default" size="100%">Heike, Toshio</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.</style></title><secondary-title><style face="normal" font="default" size="100%">Arthritis Rheum</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Arthritis Rheum.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Carrier Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Case-Control Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Child, Preschool</style></keyword><keyword><style  face="normal" font="default" size="100%">Cryopyrin-Associated Periodic Syndromes</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Association Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mosaicism</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2011</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2011 Nov</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">63</style></volume><pages><style face="normal" font="default" size="100%">3625-32</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;OBJECTIVE: &lt;/b&gt;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.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;An international case-control study was performed to detect somatic NLRP3 mosaicism in NOMID/CINCA syndrome patients who had shown no mutation during conventional sequencing. Subcloning and sequencing of NLRP3 was performed in these mutation-negative NOMID/CINCA syndrome patients and their healthy relatives. Clinical features were analyzed to identify potential genotype-phenotype associations.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;Somatic NLRP3 mosaicism was identified in 18 of the 26 patients (69.2%). Estimates of the level of mosaicism ranged from 4.2% to 35.8% (mean ± SD 12.1 ± 7.9%). Mosaicism was not detected in any of the 19 healthy relatives (18 of 26 patients versus 0 of 19 relatives; P &lt; 0.0001). In vitro functional assays indicated that the detected somatic NLRP3 mutations had disease-causing functional effects. No differences in NLRP3 mosaicism were detected between different cell lineages. Among nondescript clinical features, a lower incidence of mental retardation was noted in patients with somatic mosaicism. Genotype-matched comparison confirmed that patients with somatic NLRP3 mosaicism presented with milder neurologic symptoms.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;Somatic NLRP3 mutations were identified in 69.2% of patients with mutation-negative NOMID/CINCA syndrome. This indicates that somatic NLRP3 mosaicism is a major cause of NOMID/CINCA syndrome.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">11</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/21702021?dopt=Abstract</style></custom1></record></records></xml>