Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients

CAPS is caused by mutations in the NLRP3 gene and is inherited in an autosomal dominant fashion. About 40% of children with CINCA are mutation negative by conventional Sanger sequencing, but NLRP3 somatic mosaicism can be identified by sensitive multi-parallel sequencing (MPS) in a significant proportion of such patients.