Candidiasis, Familial, 8

A number sign (#) is used with this entry because of evidence that familial chronic mucocutaneous candidiasis-8 (CANDF8) is caused by homozygous mutation in the TRAF3IP2 gene (607043) on chromosome 6q21. One such family has been reported.

Description

Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae with Candida albicans, and sometimes by staphylococcal skin infections (summary by Boisson et al., 2013).

For a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 (114580).

Clinical Features

Boisson et al. (2013) reported a brother and sister, born to consanguineous Algerian parents, with chronic mucocutaneous candidiasis. The 30-year-old brother developed macrocheilitis associated with progressive chronic macroglossia at age 8 years, and had recurrent oral candidiasis involving the mouth and tongue. From early childhood, his 28-year-old sister had recurrent episodes of bilateral blepharitis and folliculitis decalvans caused by S. aureus, and also had occasional episodes of oral thrush due to C. albicans and of onychomycosis due to C. parapsilosis. Both sibs had infantile seborrheic dermatitis, which resolved with local treatment within 6 weeks. Immunologic evaluation was unremarkable. Neither patient displayed psoriasis (see 614070).

Molecular Genetics

In a consanguineous Algerian family in which a brother and sister had chronic mucocutaneous candidiasis, Boisson et al. (2013) performed homozygosity mapping in 2 affected and 2 unaffected sibs, as well as exome sequencing of the affected brother, and identified a homozygous missense mutation in the ACT1 gene (T536I; 607043.0002) that segregated with disease in the family and was not found in more than 10,000 chromosomes or in the 1000 Genomes Project or dbSNP (build 135) databases.