| Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder) |
| Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency |
| Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency
Mendelian susceptibility to mycobacterial disease due to partial STAT1 (signal transducer and activator of transcription 1) deficiency
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| A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. The prevalence is unknown. First infections occur after the age of 3. Clinical penetrance is incomplete and some patients are asymptomatic while others have very mild clinical manifestations. Caused by heterozygous mutations in the STAT1 gene on chromosome 2q32.2-q32.3 encoding the signal transducer and activator of transcription 1. Two distinct forms have been described: one affecting phosphorylation and the other impairing DNA-binding activity. Transmission is autosomal dominant. |
| mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële deficiëntie van 'signal transducer and activator of transcription 1' |
| 'mendelian susceptibility to mycobacterial disease' door partiële STAT1-deficiëntie
mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële STAT1-deficiëntie
MSMD door partiële STAT-1-deficiëntie
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