Genetisch bedingte Candidose 7 ist eine autosomal dominante Erkrankung, die durch Mutationen des STAT1-Gens ausgelöst wird.
1. |
van de Veerdonk FL et al. (2011) STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. |
2. |
Liu L et al. (2011) Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. |
3. |
Smeekens SP et al. (2011) STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. |
4. |
Uzel G et al. (2013) Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. |
5. |
Sampaio EP et al. (2013) Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. |
6. |
Soltész B et al. (2013) New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. |
8. |
OMIM.ORG article Omim 614162 |