Characterization of a pathogenic gain-of-function mutation in the N-terminal domain of STAT1 which is reported to be associated with eosinophilic esophagitis
Abstract The pathophysiology of eosinophilic esophagitis (EoE), a chronic allergic disease characterized by eosinophilic infiltration of the esophageal mucosa, is largely unknown. Recently, a case report described a gain-of-function (GOF) mutation in the STAT1 (signal transducer and activator of tra...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-08-01
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| Series: | Cell Communication and Signaling |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12964-025-02330-9 |
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