Table 2.
Affected gene | Polymorphism | Type of infection | Immune defects | References |
---|---|---|---|---|
Dectin-1 | Y238X | Recurrent vulvovaginal infections and oral/gastrointestinal colonization | Lack of β-glucan recognition, lower production of Candida induced TNFα, IL-6 and IL-17 | [60,61] |
I223S | Oropharyngeal candidiasis | Reduced zymosan-binding capacity and IFN-γ production | [104] | |
TLR1 | R80T N248S S602I |
Candidemia | Impaired production of pro-inflammatory cytokines induced through TLR1-2 heterodimers | [82] |
TLR3 | L412F | CMC | Defective TLR3 signaling | [68] |
IL-12B | –2724INS/DEL | Persistent candidemia | Lower production of IFN-γ induced by Candida | [87] |
IL-10 | –1082A/G | Persistent candidemia | Higher production of IL-10 induced by Candida | [87] |
MBL2 | Codon 54 and 57 | Candidemia, abdominal Candida infection, recurrent vulvovaginal candidiasis | Lower MBL serum levels | [95, 98–100] |
IL-4 | –589T/C | Recurrent vulvovaginal candidiasis | Increased levels of vaginal IL-4 and reduced levels of nitric oxide and MBL | [113] |
–1098T/G –589C/T –33C/T |
Chronic disseminated candidiasis | Unknown | [114] | |
NLRP3 | Length polymorphism | Recurrent vulvovaginal candidiasis | Impaired production of IL-1β | [55] |
DEFB1 | –44C/G | C. albicans carriage | Unknown | [86] |