| Gene/pathway | Inheritance and functional class | Characteristic phenotype beyond mucocutaneous *Candida* | Key evidence/PMIDs |
|---|---|---|---|
| **STAT1 (GOF)** | **AD**; gain-of-function JAK-STAT signaling with impaired Th17/IL-17 immunity | Broad immune dysregulation: bacterial and viral infections, autoimmunity, vascular complications/aneurysm risk; CMC is the most common manifestation and may account for a large fraction of Mendelian CMC cases (pqac-00000002, pqac-00000004, pqac-00000011, pqac-00000017) | PMID **21727188** (Open Targets literature link), large CMC cohort with **35/57** mutated and **61%** of screened CMC patients carrying heterozygous STAT1 variants (pqac-00000013, pqac-00000014) |
| **IL17F** | Likely **AD** cytokine defect; impaired IL-17 effector signaling at mucosa (direct Mendelian association supported in disease-target evidence) | Primarily isolated CMC phenotype in the IL-17 axis; broader extra-Candida phenotype not defined in gathered context (pqac-00000000, pqac-00000013) | PMID **21350122** (Open Targets literature link) (pqac-00000013) |
| **IL17RA** | **AR** receptor deficiency; loss of IL-17 receptor signaling | Predisposition centered on chronic/recurrent mucocutaneous candidiasis due to failed IL-17 responses; broader phenotype not detailed in gathered context (pqac-00000000, pqac-00000013) | PMID **21350122**, PMID **22951726** (Open Targets literature links) (pqac-00000013) |
| **IL17RC** | Receptor deficiency; likely **AR** loss of IL-17A/F signaling | CMC with defective IL-17-mediated mucosal antifungal immunity; limited extra-Candida detail in gathered context (pqac-00000007, pqac-00000013) | PMID **25918342** (Open Targets literature link) (pqac-00000013) |
| **TRAF3IP2 / ACT1** | Adaptor/signaling defect downstream of IL-17 receptor; loss of function, likely **AR** | CMC from impaired IL-17 signal transduction; broader syndromic features not specified in gathered context (pqac-00000000, pqac-00000007, pqac-00000013) | PMID **24120361** (Open Targets literature link) (pqac-00000013) |
| **RORC** | Bi-allelic transcription-factor deficiency affecting Th17 development/function | Not isolated to Candida: impaired immunity to *Candida* plus susceptibility to mycobacterial infection is noted in gathered context (indirect mechanistic support) (pqac-00000005, pqac-00000006) | No direct PMID extracted in current context; association supported indirectly by cited 2024 review reference list and mechanistic review snippet (pqac-00000005, pqac-00000006) |
| **CARD9** | **AR** innate antifungal signaling defect downstream of C-type lectin pathways | Distinguishing feature is **invasive candidiasis including CNS disease**, not just mucocutaneous infection (pqac-00000000, pqac-00000005, pqac-00000006) | PMIDs linked by Open Targets include **19864672**, **23335372**, **24131138**, **25057046**, **26679537** (pqac-00000013) |
| **CLEC7A (Dectin-1)** | Pattern-recognition receptor defect in fungal sensing; association appears weaker/more indirect than STAT1/IL-17 pathway genes | Mucocutaneous Candida susceptibility via impaired fungal recognition; invasive phenotype less clearly established in gathered context (pqac-00000006, pqac-00000013) | PMIDs linked by Open Targets include **19864674** and related supporting literature; indirect/uncertain strength for isolated Mendelian CMC should be noted (pqac-00000013) |
| **AIRE** | **AR** autoimmune polyendocrine syndrome type 1 (APS-1/APECED); autoimmune cytokine-neutralizing pathobiology affecting IL-17/IL-22 axis | Classic triad includes **hypoparathyroidism** and **adrenal insufficiency/Addison disease**; CMC is among the earliest and most frequent manifestations (pqac-00000000, pqac-00000005) | AIRE is strongly linked to APS-1 rather than isolated CMC; Open Targets supports AIRE–APS1 association (e.g., PMID **11275943**) (pqac-00000013) |
| **STAT3, DOCK8** *(differential; broader Th17 defects rather than classic isolated CMC)* | Syndromic inborn errors with **Th17 deficiency**; not presented in gathered context as primary isolated CMC genes | Should prompt differential diagnosis because they cause wider immunodeficiency syndromes with CMC as one feature rather than isolated familial CMC (pqac-00000005) | Review-level support in gathered context; no direct disease-specific PMID extracted here for isolated CMC assignment (pqac-00000005) |


*Table: This table summarizes the main genes and syndromic pathways linked to chronic mucocutaneous candidiasis in the gathered evidence. It distinguishes core IL-17/STAT1 causes from broader differentials such as APS-1, CARD9 deficiency, and syndromic Th17 disorders.*