Candidiasis, Familial, 6

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

IL17RC, STAT1, IL17F, IL17RA, TRAF3IP2, CLEC7A, AIRE, STAT3, RFXAP, ZNF341, EPG5, RFXANK, RFX5, CIITA, SP110, IL17A, CARMIL2, CARD9, NUDT11, IL22, STAT2, IL12RB1, IL10, IFNG, IL23A, HDAC9, CSF2, PTPN22, DOCK8, MAPK8

Drugs

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A number sign (#) is used with this entry because of evidence that familial candidiasis-6 (CANDF6) is caused by heterozygous mutation in the IL17F gene (606496) on chromosome 6p12. One such family has been reported.

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

Molecular Genetics

Puel et al. (2011) investigated a multiplex family from Argentina with autosomal dominant inheritance of chronic cutaneous candidiasis. No mutations were identified in the IL22 (605330), IL22RA (605457), IL10RB (123889), IL17RA (605461), IL17RC (610925), or IL17A (603149) genes. However, Puel et al. (2011) detected a heterozygous ser65-to-leu mutation in the IL17F gene in the index case (606496.0001). Serine-65 is conserved across mammalian species. This mutation was found in all affected individuals but also in 2 apparently healthy female members, aged 9 months and 21 years, which suggested incomplete penetrance.