STAT1 overexpression triggers aplastic anemia: a pilot study unravelling novel pathogenetic insights in bone marrow failure

We identified STAT1 gain of function (GOF) in a 32-year-old female with pallor, weakness, cough, and dyspnea admitted to our Division of Medicine. She had severe oral ulcers (OU), type 1 diabetes (T1DM), and pancytopenia. Bone marrow (BM) biopsy showed the absence of erythroid precursors. Peripheral...

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Veröffentlicht in:	Clinical and experimental medicine 2023-10, Vol.23 (6), p.2687-2694
Hauptverfasser:	Solimando, Antonio Giovanni, Desantis, Vanessa, Palumbo, Carmen, Marasco, Carolina, Pappagallo, Fabrizio, Montagnani, Monica, Ingravallo, Giuseppe, Cicco, Sebastiano, Di Paola, Rosa, Tabares, Paula, Beilhack, Andreas, Dammacco, Franco, Ria, Roberto, Vacca, Angelo
Format:	Artikel
Sprache:	eng
Schlagworte:	Anemia Aplasia Aplastic anemia Biopsy Bone marrow CD8 antigen Clinical Practice Cough Diabetes mellitus (insulin dependent) Dyspnea Genetic diversity Hematology Hemopoiesis Immunity Internal Medicine Leukocytes (neutrophilic) Lymphocytes T Medicine Medicine & Public Health Mutation Oncology Pancytopenia Peripheral blood Phenotypes Primary immunodeficiencies Respiration Reticulocytes Stat1 protein Ulcers
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Zusammenfassung:	We identified STAT1 gain of function (GOF) in a 32-year-old female with pallor, weakness, cough, and dyspnea admitted to our Division of Medicine. She had severe oral ulcers (OU), type 1 diabetes (T1DM), and pancytopenia. Bone marrow (BM) biopsy showed the absence of erythroid precursors. Peripheral blood parameters such as neutrophils
ISSN:	1591-9528 1591-8890 1591-9528
DOI:	10.1007/s10238-023-01017-0