Autosomal dominant Stat1 deficiency (Q106061)
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Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterised by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2037189455 |
||
| English | Autosomal dominant Stat1 deficiency |
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterised by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. |
Statements
CID11:ID_2037189455
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dki-india-ID_2037189455
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Concluído
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16 August 2026
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