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
10.3389/fimmu.2020.620046
Front Immunol
2021 Jan 15;11:620046.
stat3 gain-of-function autoimmune lymphoproliferative syndrome hematopoietic stem cell transplantation hemolytic anemia hereditary spherocytosis lymphadenopathy primary immune regulatory disorders spectrin deficiency
CC BY
https://pubmed.ncbi.nlm.nih.gov/33519826/
Agammaglobulinemia / genetics Anemia, Hemolytic, Autoimmune / genetics Gain of Function Mutation Lymphoproliferative Disorders / genetics STAT3 Transcription Factor / genetics Spectrin / deficiency
Agammaglobulinemia / genetics Anemia, Hemolytic, Autoimmune / genetics Gain of Function Mutation Lymphoproliferative Disorders / genetics STAT3 Transcription Factor / genetics Spectrin / deficiency Case Reports Research Support, Non-U.S. Gov't Agammaglobulinemia / immunology Age of Onset Anemia, Hemolytic, Autoimmune / immunology Child Cyclosporine / adverse effects Cyclosporine / pharmacokinetics Cyclosporine / therapeutic use Cytochrome P-450 CYP3A / genetics Female Germ-Line Mutation Graft vs Host Disease / drug therapy Graft vs Host Disease / etiology Growth Disorders / genetics Hematopoietic Stem Cell Transplantation Humans Immunoglobulins, Intravenous / therapeutic use Immunosuppressive Agents / therapeutic use Lymphoproliferative Disorders / drug therapy Lymphoproliferative Disorders / immunology Mutation, Missense Polymorphism, Single Nucleotide Prednisolone / therapeutic use Retinal Hemorrhage / chemically induced STAT3 Transcription Factor / physiology Spectrin / genetics Unrelated Donors Immunoglobulins, Intravenous Immunosuppressive Agents STAT3 Transcription Factor STAT3 protein, human Spectrin Cyclosporine Prednisolone Cytochrome P-450 CYP3A CYP3A4 protein, human
PMC7843414
33519826
Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia
2021