Chronic mucocutaneous candidosis: genes and variants

Genes linked to Chronic mucocutaneous candidosis

• STAT1: Signal transducer and activator of transcription 1-alpha/beta

  It executes interferon-driven transcriptional programs required for antiviral and antimycobacterial immunity. Loss-of-function variants can cause severe infectious susceptibility, whereas gain-of-function variants classically cause chronic mucocutaneous candidiasis and autoimmunity.

  1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in STAT1 have source records linked to Chronic mucocutaneous candidosis. Association strength is not clinical gene validity.

• IL17F: Interleukin-17F

  It promotes epithelial and stromal antimicrobial responses, chemokine production, and neutrophil recruitment, often together with IL-17A. Dominant-negative or loss-of-function variants can predispose to chronic mucocutaneous candidiasis.

  0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in IL17F have source records linked to Chronic mucocutaneous candidosis. Association strength is not clinical gene validity.

• TRAF3IP2: E3 ubiquitin ligase TRAF3IP2

  It connects IL-17 receptors to downstream NF-kappaB and MAPK signaling and is therefore central to barrier-tissue inflammatory responses. Pathogenic loss-of-function variants can cause chronic mucocutaneous candidiasis, while common variants influence psoriasis and related inflammatory disease.

  0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in TRAF3IP2 have source records linked to Chronic mucocutaneous candidosis. Association strength is not clinical gene validity.

• CARD9: Caspase recruitment domain-containing protein 9

  It couples fungal and other innate immune receptors to NF-kappaB and inflammatory signaling in myeloid cells. Biallelic loss-of-function variants cause profound susceptibility to invasive and mucocutaneous fungal infections.

  0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in CARD9 have source records linked to Chronic mucocutaneous candidosis. Association strength is not clinical gene validity.

• IL17RA: Interleukin-17 receptor A

  It is required for cellular responses to IL-17A and IL-17F, linking T-cell signals to epithelial antimicrobial defense. Biallelic loss-of-function variants can cause chronic mucocutaneous candidiasis through defective mucosal antifungal immunity.

  0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in IL17RA have source records linked to Chronic mucocutaneous candidosis. Association strength is not clinical gene validity.

ClinVar pathogenic and likely pathogenic variants linked to Chronic mucocutaneous candidosis

Same protein, different disease

• Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome also has ClinVar records linked to STAT1 variants; they fall mostly in different places as the Chronic mucocutaneous candidosis variants (47 pathogenic / likely pathogenic).
• Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency also has ClinVar records linked to STAT1 variants; they fall mostly in different places as the Chronic mucocutaneous candidosis variants (38 pathogenic / likely pathogenic).
• Inherited Immunodeficiency Diseases also has ClinVar records linked to STAT1 variants; they fall mostly in different places as the Chronic mucocutaneous candidosis variants (6 pathogenic / likely pathogenic).

Diseases related to Chronic mucocutaneous candidosis

• Candidiasis, familial, 6, also linked to IL17F and TRAF3IP2
• Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome, also linked to STAT1
• Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, also linked to STAT1
• Inherited Immunodeficiency Diseases, also linked to STAT1

Frequently asked questions

Which genes have records linked to Chronic mucocutaneous candidosis?

This view contains 5 analyzed proteins: STAT1, IL17F, TRAF3IP2, CARD9, IL17RA. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.

What do the clinical classifications mean?

Linked records include 1 pathogenic or likely pathogenic variants, 0 variants of uncertain significance and 0 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.

Does the evidence score change a VUS classification?

No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.

Can I download the variant evidence?

Download the CSV for all 168 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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