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- Title
A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.
- Authors
Marujo, Filipa; Pelham, Simon J.; Freixo, João; Cordeiro, Ana Isabel; Martins, Catarina; Casanova, Jean-Laurent; Lei, Wei-Te; Puel, Anne; Neves, João Farela
- 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.
- Subjects
CANDIDIASIS; RECESSIVE genes; GAIN-of-function mutations; ATOPIC dermatitis; DYSPLASIA
- Publication
Journal of Clinical Immunology, 2021, Vol 41, Issue 6, p1376
- ISSN
0271-9142
- Publication type
Letter
- DOI
10.1007/s10875-021-01026-2