Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Immundefekt 31C

Die Immundefizienz 31C ist eine autosomal dominante Erkrankung die durch Mutationen im STAT1-Gen ausgelöst wird.

Gliederung

Primärer Immundefekt
Erbliche Infektionsanfälligkeiten
Immundefekt 31A
Immundefekt 31B
Immundefekt 31C
STAT1
Wiskott-Aldrich-Syndrom

Referenzen:

1.

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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