Autosomal dominant Stat1 deficiency (Q106061): Difference between revisions
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Suscetibilidade mendeliana a doenças micobacterianas (MSMD) devida à deficiência parcial de STAT1 (transdutor de sinal e ativador de transcrição 1) é uma variante genética da MSMD caracterizada por um defeito parcial na via do interferon (IFN)-gama, levando a infecções micobacterianas leves. | |||
| description / en | description / en | ||
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. | |||
Revision as of 12:50, 17 August 2026
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 |
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| 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. |
