Candidiasis, Familial, 4

A number sign (#) is used with this entry because familial candidiasis-4 (CANDF4) is caused by homozygous mutation in the DEC1 (CLEC7A) gene (606264) on chromosome 12p13.

For a general description and a discussion of genetic heterogeneity of familial chronic candidiasis, see CANDF1 (114580).

Clinical Features

Ferwerda et al. (2009) studied a nonconsanguineous Caucasian family of Dutch ancestry in which 2 sisters had recurrent vulvovaginal candidiasis and onychomycosis. Another sister and their mother had chronic onychomycosis, whereas their father had only transient onychomycosis, with a relatively late age at onset and complete recovery. Microbiologic assessment of the nails of the 3 sisters revealed growth of Trichophyton rubrum. The proband had cells that were hyporesponsive to Candida albicans stimulation, with cytokine production that was 15% or less than that of controls. The lack of cytokine production was pinpointed to an impaired response to beta-glycan, indicating a potential defect in dectin-1 (CLEC7A; 606264) recognition. The patients had no known predisposing factors, such as diabetes (see 125853) or infection with human immunodeficiency virus.

Molecular Genetics

In 3 sisters with recurrent vulvovaginal candidiasis and/or onychomycosis, Ferwerda et al. (2009) identified homozygosity for a nonsense mutation (Y238X; 606264.0001) in the CLEC7A gene. The parents, who had only chronic or intermittent onychomycosis, respectively, were each heterozygous for the mutation.