Chronic mucocutaneous Candidiasis, familial

Familial chronic mucocutaneous candidiasis (CMC) comprises a group of rare, phenotypically related or identical but genetically heterogeneous diseases with altered immune responses (often) selectively directed against Candida, characterized by persistent and/or recurrent infections of the skin, nails, and mucous membranes.

CMC type 1 (CANDF1;familial candidiasis-1) mutation in a gene at chromosome 2p.

CMCtype 2 (CANDF2; OMIM:212050) mutation in the CARD9 gene (607212) at chromosome 9q34.3.

CMC type 3 (CANDF3; OMIM:607644), a form restricted to hand and toenails, gene is located at chromosome 11.

CMC type 4 (CANDF4; OMIM: 613108) mutation in CLEC7A gene (606264) at chromosome 12p13.

CMC type 5 (CANDF5; OMIM: 613953) A form of familial candidiasis previously thought to be isolated. It was originally named CANDF5 and is caused by a mutation in the IL17RA gene . In fact, this clinical picture is part of a primaryimmunodeficiency (immunodeficiency 51) that, in addition to a tendency to recurrent candia infections, includes staphylococcal skin infections and increased susceptibility to chronic bacterial respiratory infections (Zuccarello D et al. 2002).

CMC type 6 (CANDF6; OMIM:613956) mutation in the IL17F gene (606496) at chromosome 6p12.

CMC type 7 (CANDF7;OMIM:614162=immune deficiency31B/C) mutation in STAT1 gene (600555) at chromosome 2q32 (affects >50% of cases of familial CMC; Blanco Lobo P et al. 2021).

CMC type 8 (CANDF8; OMIM:615527) mutation in the TRAF3IP2 gene (607043) at chromosome 6q21.

Type 9(CANDF9; OMIM:616445) mutation in IL17RC gene (610925) at chromosome 3p25.

1. Sheng R et al.(2021) The Role of CARD9 Deficiency in Neutrophils. Mediators Inflamm 4:6643603.
2. Zhong X et al. (2018) Molecular and physiological roles of the adaptor protein CARD9 in immunity. Cell Death and Disease 9: 52.
3. Zuccarello D et al. (2002) Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis. J Med Genet 39: 671-675.