Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

MONDO:0013955

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.

Also known as: IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency, 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, autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1, immunodeficiency type 30, IL-12Râ1 deficiency, IL12RB1 deficiency

5 clinical trials for this condition and its sub-types.

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