Article
An Unexpected Infection in Loss-of-Function Mutations in STAT3: Malignant Alveolar Echinococcosis in Liver.
Iranian journal of allergy, asthma, and immunology - 19 Dec 2020
Haskologlu Sule, Dogu Figen, Gollu Bahadır Gulnur, Akyuzluer Setenay, Ciftci Ergin, Altun Demet, Keles Sevgi, Kologlu Meltem, Ikinciogullari Aydan
Abstract excerpt
Loss-of-function (LOF) mutations in signal transducer and activator of transcription 3 (STAT3) gene causes autosomal dominant hyper immunoglobulin E syndrome (AD-HIES or Job's Syndrome), a rare and complex primary immunodeficiency (PID) syndrome characterized by increased levels of IgE (>2000 IU/mL), eosinophilia, recurrent staphylococcal skin abscesses, eczema, recurrent pneumonia, skeletal and connective tissue...
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