Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia

STAT3 gain-of-function (GOF) mutations can be responsible for an incomplete phenotype mainly characterized by hematological autoimmunity, even in the absence of other organ autoimmunity, growth impairment, or severe infections. We hereby report a case with an incomplete form of STAT3 GOF intensified...

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Detalles Bibliográficos
Autores principales: Ciullini Mannurita, Sara, Goda, Rayan, Schiavo, Ebe, Coniglio, Maria Luisa, Azzali, Annachiara, Fotzi, Ilaria, Tondo, Annalisa, Tintori, Veronica, Frenos, Stefano, Sanvito, Maria Chiara, Vignoli, Marina, Luceri, Cristina, Bigagli, Elisabetta, Grassi, Alessia, D’Elios, Mario Milco, Favre, Claudio, Gambineri, Eleonora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7843414/
https://www.ncbi.nlm.nih.gov/pubmed/33519826
http://dx.doi.org/10.3389/fimmu.2020.620046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7843414/
https://www.ncbi.nlm.nih.gov/pubmed/33519826
http://dx.doi.org/10.3389/fimmu.2020.620046

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