rs11575935

This variant is located in the IL12RB1 gene.

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ClinVar annotation

Likely Benign★★★☆
8 submitters2 publications

not provided; Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; not specified

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Research that mentions this SNP (1)

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IL-12Rβ1 Deficiency: Mutation Update and Description of theIL12RB1Variation Database
ReviewEsther van de Vosse et al.(2013)· Human Mutation

This is a comprehensive mutation update and database description paper for the IL12RB1 gene, which encodes the IL-12 receptor β1 chain. The authors review 70 unique pathogenic mutations found in 198 individuals worldwide causing IL-12R β1 deficiency, an autosomal recessive disorder characterized by increased susceptibility to mycobacterial and salmonella infections. The paper also reports 115 variations of unknown significance and reviews associations of IL12RB1 polymorphisms (rs11575925, rs147215816, rs11575926, rs11575934, rs375947, rs401502, rs11575935) with tuberculosis and other diseases, though most reported associations have not been replicated in larger cohorts.

Traits studied:Atopic dermatitisChildhood asthmaIL-12R β1 deficiencyMalarial anaemiaMendelian Susceptibility to Mycobacterial Disease (MSMD)Mycobacterial infectionsNon-Hodgkin lymphomaSalmonella infectionsSevere Acute Respiratory Syndrome (SARS)Tuberculosis
PubMedDOIMetascience Observatory

About IL12RB1

The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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