X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency: genes and variants
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency is linked to 1 analyzed protein (CYBB). 3 DNA variants are known to cause it; 5 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
CYBB: NADPH oxidase 2
It generates the catalytic electron flow that allows phagocytes to produce microbicidal reactive oxygen species during the respiratory burst. Loss-of-function variants cause X-linked chronic granulomatous disease with severe susceptibility to bacterial and fungal infection.
3 disease-causing and 5 uncertain variants in CYBB are linked to X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency.
Known disease-causing variants in X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CYBB G223L | 223 | Ferric oxidoreductase | Disease-causing (★) |
| CYBB T178P | 178 | Ferric oxidoreductase | Disease-causing |
| CYBB Q231P | 231 | Ferric oxidoreductase | Disease-causing |
Same protein, different disease
- Granulomatous disease, chronic, X-linked is also caused by CYBB variants; they fall mostly in different places as the X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency variants (36 disease-causing).
- Granulomatous disease, chronic, X-linked, variant is also caused by CYBB variants; they fall mostly in different places as the X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency variants (3 disease-causing).
Diseases related to X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
- Granulomatous disease, chronic, X-linked, also linked to CYBB
- Chronic granulomatous disease, also linked to CYBB
Frequently asked questions
Which genes are linked to X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency?
In CATVariant, X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency is linked to 1 analyzed protein: CYBB (NADPH oxidase 2).
How many genetic variants are linked to X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency?
9 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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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