Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency: genes and variants
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency is linked to 1 analyzed protein (IL12RB1). 6 DNA variants are known to cause it; 196 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 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1: Interleukin-12 receptor subunit beta-1
It is shared by IL-12 and IL-23 receptor complexes and is required for effective Th1 and Th17 immune responses. Biallelic loss-of-function variants are a common genetic cause of Mendelian susceptibility to mycobacterial disease.
6 disease-causing and 196 uncertain variants in IL12RB1 are linked to Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency.
Where Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency variants cluster
- IL12RB1 Fibronectin type-III 2 (positions 142–234): 6 of 6 disease-causing changes, 7.1× more than its size predicts.
Known disease-causing variants in Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| IL12RB1 R213W | 213 | Fibronectin type-III 2 | Disease-causing (★★) |
| IL12RB1 R173W | 173 | Fibronectin type-III 2 | Disease-causing (★★) |
| IL12RB1 R211P | 211 | Fibronectin type-III 2 | Disease-causing (★) |
| IL12RB1 R212Q | 212 | Fibronectin type-III 2 | Disease-causing (★) |
| IL12RB1 R175W | 175 | Fibronectin type-III 2 | Disease-causing (★) |
| IL12RB1 C198R | 198 | Fibronectin type-III 2 | Disease-causing |
Frequently asked questions
Which genes are linked to Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency?
In CATVariant, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency is linked to 1 analyzed protein: IL12RB1 (Interleukin-12 receptor subunit beta-1).
How many genetic variants are linked to Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency?
218 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 196 are of uncertain significance or have conflicting reports.
Which uncertain variants in Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 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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