Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

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Disease Overview

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.

Synonyms

IL-12Râ1 deficiency
IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
IL12RB1 deficiency
IMD30
MSMD due to complete IL12RB1 deficiency
MSMD due to complete interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to mycobacterial infections due to IL12 deficiency
autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1
immunodeficiency 30
immunodeficiency type 30

Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.