TABLE 1.
Genetic mutations, human ancestry, and fungal infections.
Immune response | Genes | Ancestry link** | Fungal pathogen | Diseases | |
Innate immunity | Cell mediated | DOCK8, MyD88**, CARD9**, NCF1, TLR1, MPO, CYBB, CYBA, NADPH oxidase | Chinese (Han) African | Candida | Chronic mucocutaneous candidiasis (CMC), chronic granulomatous disease (CGD), candidemia |
PTX3, NCF1, NCF2, NCF4, DOCK8, TLR4, NADPH oxidase, MPO | Aspergillus | Invasive aspergillosis (IA) | |||
CARD9, DOCK8 | Malassezia | Pityriasis versicolor | |||
MBL, MASP-2** | Chinese | Sporothrix | Sporotrichosis | ||
MBL** | Chinese | Pneumocystis jirovecii | Pneumocystis pneumonia (PCP) | ||
Candida | Recurrent vulvovaginal candidiasis (RVVC) | ||||
Ferroxidase | Mucorales | Mucormycosis | |||
HLA-B22** | Mexican | Histoplasma capsulatum | Histoplasmosis | ||
Humoral | IL-17F, Act1, IL-12RB1, IL-17R, IL-17A, IL-17RA, IL-4, IL-12, TyK2, IL-17RC ZNF341, IL-17, IL-22, Y238X, CLEC7A, IL-10 | Candida, Histoplasma capsulatum | Chronic mucocutaneous candidiasis (CMC), recurrent vulvovaginal candidiasis (RVVC), histoplasmosis, hyper–immunoglobulin E syndrome (HIES) | ||
Dectin 1**, IL-10 | Chinese (Han) Dutch | Coccidioides immitis | Coccidioidomycosis | ||
Y238X**, IL-10**, TNFα**, IFN-γ**, CLEC7A, CX3CR1**, ARNT2** Asp299Gly, Thr39lle | European (Dutch, Caucasian) | Aspergillus | Invasive pulmonary aspergillosis (IPA) | ||
rs2243250(IL-4) | Pneumocystis jirovecii | Pneumocystis pneumonia (PCP) | |||
IL-6 | Blastomyces | Blastomycosis | |||
IL-2 | Histoplasma | Histoplasmosis | |||
Adaptive immunity | Cell mediated | STAT1 | Histoplasma | Histoplasmosis | |
Coccidiodes | Coccidioidomycosis | ||||
STAT1, STAT3, AIRE, GATA2, RORC, CYP2C19**, RAG1, RAG2 | Chinese (Han) Chilean | Candida | Candidiasis | ||
NOD2, STAT3, CYP2C19** | Chinese (Han) | Aspergillus | Aspergillosis | ||
CD40L ** CD50, CD80 | Chinese mainland | Pneumocystis jirovecii, Trichophyton | Invasive fungal infection (IFI) | ||
Humoral | IgG, IgA, IgE, IgM, defect in MHC class II molecule | Pneumocystis jirovecii Candida, Aspergillus, Blastomyces, Coccidioides, Cryptococcus, Histoplasma, Paracoccidioides | Pneumocystis pneumonia (PCP), candidiasis, aspergillosis, blastomycosis, coccidioidomycosis, cryptococcosis, histoplasmosis, paracoccidioidomycosis. |
The symbol ** is used for the genes having the ancestry link.