Brief Report: Late‐Onset Cryopyrin‐Associated Periodic Syndrome Due to Myeloid‐Restricted Somatic <i>NLRP3</i> Mosaicism

Abstract

We identified the novel gain-of-function p.Gln636Glu NLRP3 mutation, which was detected as a somatic mutation restricted to myeloid cells, as the cause of late-onset but otherwise typical CAPS. Our results expand the diversity of CAPS toward milder phenotypes than previously reported, including those starting during adulthood.