Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Synonyms: 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
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway leading to mild mycobacterial infections.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency?
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Immune Deficiency Foundation
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Care-for-Rare America Inc
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Ukrainian Association of Pediatric Immunology
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