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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10543574/
https://www.ncbi.nlm.nih.gov/pubmed/36826612
http://dx.doi.org/10.1007/s10238-023-01017-0

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