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 also had chronic onychomycosis, whereas their father had only transient onychomycosis, ... 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 also 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.
In a family with chronic mucocutaneous candidiasis, Ferwerda et al. (2009) identified homozygosity for a change (dbSNP rs16910526) in the CLEC7A gene, resulting in a nonsense mutation (Y238X; 606264.0001) in the gene product, in 3 sisters with recurrent ... In a family with chronic mucocutaneous candidiasis, Ferwerda et al. (2009) identified homozygosity for a change (dbSNP rs16910526) in the CLEC7A gene, resulting in a nonsense mutation (Y238X; 606264.0001) in the gene product, in 3 sisters with recurrent vulvovaginal candidiasis and/or onychomycosis. The parents, who had only chronic or intermittent onychomycosis, respectively, were each heterozygous for the nonsense variant.