A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

J Clin Immunol. 2021 Apr 7. doi: 10.1007/s10875-021-01026-2. Online ahead of print.


Inborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.

PMID:33825088 | DOI:10.1007/s10875-021-01026-2