Candidiasis, Familial, 8

Clinical variant of familial chronic mucocutaneous candidiasis caused by mutations in the TRAF3IP2-AS1 gene. The TRAF3IP2-AS1 gene is a protein-coding gene located on chromosome 6q21. The TRAF3IP2 gene encodes Act1, an adaptor protein with ubiquitin ligase activity that links the IL-17 receptor to downstream signaling pathways. The protein encoded by the TRAF3IP2 gene, Act1 is an important adaptor in the IL-17A signaling pathway.

Boisson et al (2013) reported on a sibling born to consanguineous Algerian parents who suffered from chronic mucocutaneous candidiasis. The 30-year-old brother developed macrocheilia associated with progressive chronic macroglossia at the age of 8 years, as well as recurrent oral candidiasis affecting the mouth and tongue. His 28-year-old sister suffered from recurrent episodes of bilateral blepharitis since early childhood, as well as folliculitis decalvans caused by S. aureus; further, occasional episodes of oral thrush due to C. albicans and onychomycosis (C. parapsilosis). Both siblings suffered from infantile seborrheic dermatitis that resolved with local treatment within 6 weeks. The authors identified a homozygous missense mutation in the TRAF3IP2 gene (T536I; 607043.0002)

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