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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...

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Detalles Bibliográficos
Autores principales: Erdős, Melinda, Tsumura, Miyuki, Kállai, Judit, Lányi, Árpád, Nyul, Zoltán, Balázs, György, Okada, Satoshi, Maródi, László
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
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