Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
MONDO:0013956A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.
Also known as: MSMD due to partial STAT1 deficiency, MSMD due to partial signal transducer and activator of transcription 1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency, STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1, immunodeficiency type 31A, IMD31A, Stat1 deficiency, autosomal dominant
5 clinical trials for this condition and its sub-types.
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