Abstract
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.
Original language | English |
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Pages (from-to) | 1376 - 1379 |
Journal | Journal Of Clinical Immunology |
Volume | 41 |
Issue number | 6 |
DOIs | |
Publication status | Published - Aug 2021 |
Keywords
- ACT1
- Candida spp
- chronic mucocutaneous candidiasis
- IL-17
- TRAF3IP2