Table 2.
Inborn errors of immunity underlying inherited susceptibility to C. albicans infections
| Primary immunodeficiency disorder | Associated gene | Mode of inheritance | Clinical presentation of infection |
|---|---|---|---|
| Mucosal candidiasis | |||
| APECED | AIRE | AR or AD | CMC |
| DOCK8 deficiency | DOCK8 | AR | CMC, viral infection (molluscum, HSV) |
| ZNF341 deficiency | ZNF341 | AR | CMC, bacterial infections (sinopulmonary and skin bacterial infections) |
| JNK1 haploinsufficiency | MAPK8 | AD | CMC, superficial skin bacterial infections |
| IRF8 deficiency | IRF8 | AR | CMC, disseminated NTM infection |
| RORγt deficiency | RORC | AR | CMC, disseminated NTM infection |
| IL-12p40 deficiency | IL12B | AR | CMC, intracellular bacterial and NTM infections |
| IL12Rβ1 deficiency | IL12RB1 | AR | CMC, intracellular bacterial and NTM infections |
| IL-17RA deficiency | IL17RA | AR | CMC, bacterial infections (superficial staphylococcal skin infections, bacterial pneumonias) |
| IL-17RC deficiency | IL17RC | AR | CMC |
| IL-17F deficiency | IL17F | AR | CMC |
| ACT1 deficiency | TRAF3IP2 | AR | CMC, bacterial infections (superficial staphylococcal skin infections, bacterial pneumonias) |
| Job’s syndrome | STAT3 | AD | CMC, onychomycosis, pulmonary mold infections, skin and pulmonary bacterial infections |
| STAT1 gain-of-function | STAT1 | AD | CMC, bacterial and NTM infections, viral infections, endemic fungal infections |
| SCID |
IL7RA IL2RG RAG1-2 JAK3 |
AR | CMC, bacterial infections, disseminated viral infections, PJP |
| EDA-ID |
KBKG IKBA |
AR | CMC, NTM infections |
| Systemic candidiasis | |||
| CGD |
CYBA CYBB NFC1 NFC2 |
AR or X-linked | invasive mold infections, systemic candidiasis (rare), invasive bacterial infections (Staphylococcus, Nocardia, Serratia) |
| LAD-1 | ITGB2 | AR | Systemic candidiasis, pyogenic bacterial infections (staphylococcal skin infections and gram negative bacteria, periodontitis) |
| Complete MPO deficiency | MPO | AR | Systemic candidiasis |
| Mucosal and systemic candidiasis | |||
| CARD9 deficiency | CARD9 | AR | CMC, Candida meningitis, colitis, endophthalmitis, and osteomyelitis, aspergillosis (including extrapulmonary), phaeohyphomycosis, protothecosis |
AD, autosomal dominant; AR, autosomal recessive; APECED, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; HSV, herpes simplex virus; NTM, nontuberculous mycobacteria; CMC, chronic mucocutaneous candidiasis; PJP, Pneumocystis jirovecii pneumonia; SCID, severe-combined immunodeficiency disorder; EDA-ID, anhidrotic ectodermal dysplasia with immunodeficiency: CGD chronic granulomatous disease; LAD-1, leukocyte adhesion deficiency type-1; MPO, myeloperoxidase; AIRE, autoimmune regulator; CARD9, caspase recruitment domain-containing protein 9; STAT, signal transducer and activator of transcription; DOCK8, dedicator of cytokinesis 8.