Candidiasis, Familial, 3

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

Clinical Features

Zuccarello et al. (2002) described a Sicilian kindred in which 11 individuals in 5 generations had an apparently distinctive form of familial chronic candidiasis characterized by early-onset infections caused by different species of Candida restricted to the nails of the hands and feet and associated with low serum concentration of intercellular adhesion molecule-1 (ICAM1; 147840).

Inheritance

The pedigree pattern in the family reported by Zuccarello et al. (2002) was consistent with either autosomal recessive inheritance or autosomal dominant inheritance with incomplete penetrance. Zuccarello et al. (2002) favored the latter possibility, even though the pedigree contained a few marriages between consanguineous relatives.

Mapping

By genomewide scan of the family reported by Zuccarello et al. (2002), Mangino et al. (2003) assigned the chronic mucocutaneous candidiasis (CANDF3) locus to a 19-cM pericentromeric region on chromosome 11 (multipoint lod score of 3.52 between markers D11S1312 and D11S4191). The authors excluded disease linkage to the locus for chronic mucocutaneous candidiasis with or without thyroid disease (114580) on 2p, the locus for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; 240300) on 21q22.3, and the ICAM1 locus on 19p13.