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• W2908712884 abstract "The hyper-IgE syndrome with dominant-negative mutations in signal transducer and activator of transcription 3 (STAT3) gene is a combined primary immunodeficiency characterized by severe bacterial infections (skin and lungs with bullae formation), characteristic phenotype, serum IgE elevation, eosinophilia, as well as connective tissue, and bone anomalies. Patients also have high risk of cancer. STAT3 is a transcription factor important for the JAK/STAT signaling pathway, which plays the key role in the synthesis of cytokines, hormones, and bioactive agents. Hyper-IgE syndrome therapy includes antimicrobial prophylaxis, immunoglobulin replacement, and use of bisphosphonates. Hematopoietic stem cell transplantation is an alternative way for the disease treatment. Here we describe a patient with severe autosomal dominant hyper-IgE-syndrome with thte loss-of-function mutation in the STAT3 gene. Patient's parents agreed to use personal dats and photos in research and publications." @default.
• W2908712884 created "2019-01-25" @default.
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• W2908712884 date "2019-01-13" @default.
• W2908712884 modified "2023-10-16" @default.
• W2908712884 title "Treatment approaches to hyper-IgE syndrome: a clinical case report" @default.
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• W2908712884 doi "https://doi.org/10.24287/1726-1708-2018-17-4-75-81" @default.
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