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Novel STAT‐3 gain‐of‐function variant with hypogammaglobulinemia and recurrent infection phenotype
Signal transducer and activator of transcription 3 (STAT‐3) gain‐of‐function (GOF) syndrome is an early‐onset monogenic inborn error of immunity characterized by multi‐organ autoimmune disorders, growth failure and lymphoproliferation. We describe that STAT‐3 GOF syndrome may be presented with hypog...
Autores principales: | Erdős, Melinda, Tsumura, Miyuki, Kállai, Judit, Lányi, Árpád, Nyul, Zoltán, Balázs, György, Okada, Satoshi, Maródi, László |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8374224/ https://www.ncbi.nlm.nih.gov/pubmed/34050927 http://dx.doi.org/10.1111/cei.13625 |
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