Article
Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the ATM Gene.
International journal of molecular sciences - 6 Jan 2023
Czarny Jakub, Andrzejewska Marta, Zając-Spychała Olga, Latos-Grażyńska Elżbieta, Pastorczak Agata, Wypyszczak Kamila, Szczawińska-Popłonyk Aleksandra, Niewiadomska-Wojnałowicz Izabela, Wziątek Agnieszka, Marciniak-Stępak Patrycja, Dopierała Michał, Małdyk Jadwiga, Jończyk-Potoczna Katarzyna, Derwich Katarzyna
Abstract excerpt
Ataxia-telangiectasia (AT) is a multisystemic neurodegenerative inborn error of immunity (IEI) characterized by DNA repair defect, chromosomal instability, and hypersensitivity to ionizing radiation. Impaired DNA double-strand break repair determines a high risk of developing hematological malignancies, especially lymphoproliferative diseases. Poor response to treatment, excessive chemotherapy toxicities, and the...
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