Article
Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia.
Frontiers in immunology - 1 Jan 2020
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
Abstract excerpt
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 by a concomitant hereditary hematological disease, which misleads the diagnosis. The patient presented with...
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