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

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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Bibliographic Details
Main Authors: Sara Ciullini Mannurita, Rayan Goda, Ebe Schiavo, Maria Luisa Coniglio, Annachiara Azzali, Ilaria Fotzi, Annalisa Tondo, Veronica Tintori, Stefano Frenos, Maria Chiara Sanvito, Marina Vignoli, Cristina Luceri, Elisabetta Bigagli, Alessia Grassi, Mario Milco D’Elios, Claudio Favre, Eleonora Gambineri
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-01-01
Series:Frontiers in Immunology
Subjects:
STAT3 gain-of-function
spectrin deficiency
primary immune regulatory disorders
hereditary spherocytosis
hemolytic anemia
autoimmune lymphoproliferative syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2020.620046/full

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