Vollständiger Abstract
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Signal transducer and activator of transcription 1 (STAT1) defects present with diverse clinical phenotypes. We describe an unusual genotype/phenotype: disseminated mycobacterial infection without chronic mucocutaneous candidiasis in the context of a pathogenic STAT1 gain-of-function variant (p.Lys388Glu). To our knowledge, this is the first report of such a case.
Bibliografischer Nachweis
Publikationsdaten
- Autor:innen
- Kavitha Thiagarajan, Huan Vinh Dong, Caroline Y. Kuo, Timothy J. Thauland, Sheeja Pullarkat, Manish J. Butte, Maria I. Garcia-Lloret, Karin Nielsen-Saines
- Quelle
- Journal of Human Immunity
- Publikation
- 2026-01-01
- Band / Ausgabe
- Nicht angegeben
- Seiten
- Nicht angegeben
- ISSN / ISBN
- 3065-8993
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Zitierfähiger Nachweis
Kavitha Thiagarajan, Huan Vinh Dong, Caroline Y. Kuo, Timothy J. Thauland, Sheeja Pullarkat, Manish J. Butte, Maria I. Garcia-Lloret, Karin Nielsen-Saines (2026). STAT1 gain-of-function variant in a previously healthy patient with disseminated Mycobacterium genavense infection. Journal of Human Immunity. https://doi.org/10.70962/jhi.20250139
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