Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Die Immundefizienz 31C ist eine autosomal dominante Erkrankung die durch Mutationen im STAT1-Gen ausgelöst wird.
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van de Veerdonk FL et al. (2011) STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. 
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| 2. |
Liu L et al. (2011) Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
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| 3. |
Smeekens SP et al. (2011) STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.
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| 4. |
Uzel G et al. (2013) Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
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| 5. |
Sampaio EP et al. (2013) Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
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| 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.
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| 7. |
Yamazaki Y et al. (2014) Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.
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| 8. |
OMIM.ORG article Omim 614162
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