PW02-029 - Single cell fluorescent immunoassay of CINCA/NOMID
نویسندگان
چکیده
Introduction CINCA syndrome, also known as NOMID, is a rare autoinflammatory disease caused by the NLRP3 mutations. It has been known that conventional genetic analysis failed to detect disease-causing mutations in approximately 40% of patients. We have recently identified NLRP3 somatic mosaicism on 70% of these ”mutation-negative” patients in the international collaborative study (Tanaka N. and Izawa K. et al., Arthritis Rheum, 2011), and found no significant differences on systemic inflammation between heterozygous germline mutations and somatic mosaicism. This raises a question how a small number of NLRP3-mutated cells cause systemic inflammation as severely as 100% of germline mutations.
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