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Heterozygous germline mutations in NLRP3 are a known cause of Cryopyrin associated periodic syndrome (CAPS). However, in a considerable number of these patients mutations cannot be detected by conventional genetic analyses. Somatic mosaicism has been detected in several mutation-negative patients, and is suggested to be a major cause of CAPS in these patients.

PW02-034 - NLRP3 mosaicism detection in CAPS using NGS