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Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene.
Features include: Recurrent infections, Recurrent mycobacterial infections, and Immunodeficiency.
Organ System |
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Phenotype Count |
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Example Features |
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Blood and immune system | 3 | Recurrent infections, Recurrent mycobacterial infections, Immunodeficiency |
IL12RB1 encodes interleukin 12 receptor subunit beta 1 (662 aa). Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Highest expression in Spleen (17.5 TPM) and Cells EBV-transformed lymphocytes (16.5 TPM).
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency is associated with mutations in the IL12RB1 gene on chromosome 19.
The IL12RB1 protein participates in IL12 bound to IL12R internalises pathway.
IL12RB1 is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Tyrosine Kinase categories) with score 8.7.
Genetic testing for IL12RB1 is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency.
2 publications have been identified in PubMed for Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).
Zhang W (2026). [PMID: 41957131](https://pubmed.ncbi.nlm.nih.gov/41957131/). *J Clin Immunol*. [Epidemiology / Natural History]
Raghuraman K (2025). [PMID: 40656276](https://pubmed.ncbi.nlm.nih.gov/40656276/). *Cureus*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:53 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Common questions about Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency