Table 1.
Reported genes associated with chronic mucocutaneous candidiasis.
| Underlying immune mechanism | Syndrome | Involved gene | Inheritance | References |
|---|---|---|---|---|
| Anti-IL-17 neutralizing autoantibodies | APECED | AIRE | AR | (1–3) |
| IL-17 and IL-17 receptor decreased production | CMC |
IL17F
IL17RC IL17RA |
AR | (4–7) |
| Defective Th17 differentiation or intracellular signaling | STAT1 gain of function | STAT1 | AD | (2, 8–18) |
| HIES | STAT3 | AD | (19, 20) | |
| DOCK8 | AR | (21) | ||
| TYK2 | AR | (22) | ||
| ZNF341 | AR | (23) | ||
| PGM3 | AR | (24) | ||
| CARD11 | AD | (25) | ||
| RORγT deficiency | RORC | AR | (26) | |
| ACT1 deficiency | ACT1 | AR | (27, 28) | |
| JNK1 deficiency | MAPK8 | AD | (29) | |
| MSMD | IL12 | AR | (30) | |
| IL12B | ||||
| IL12RB1 | ||||
| Decreased Candida spp. recognition | CARD9 deficiency | CARD9 | AR | (31–33) |
| Dectin 1 deficiency | CLEC7A | AR | (34) |
IL, interleukin; APECED, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; AIRE, autoimmune regulator; Th17, T helper 17; DOCK8, dedicator of cytokinesis 8; STAT, Signal transducer and activator of transcription; HIES, hyper IgE syndromes; RORγT, RAR-related orphan receptor gamma; CARD, Caspase recruitment domain-containing protein; PGM3, phosphoglucomutase 3; MSMD, Mendelian Susceptibility to Mycobacterial Diseases; TYK2, tyrosine-protein kinase 2; JNK1, c-Jun N-terminal kinase 1; AD, autosomal dominant; AR, autosomal recessive; CLEC7A, C-Type Lectin Domain Containing 7A.