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- W2009097023 abstract "Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive DNA repair disorder characterized by immune deficiency, microcephaly, mental retardation and a disposition for the development of hematological malignancies. So far, mostly pediatric patients have been described, since the underlying condition is often fatal before adulthood. Many patients diagnosed with Hodgkin lymphoma (HL) due to this DNA repair defect receive reduced treatment followed by early progression and fatal outcome.We describe here a 26-year old male caucasian patient with NBS who presented with multi organ failure due to HL. Immediate intensive chemotherapy lead to complete remission and reversed organ failure.We show that application of standard chemotherapy can lead to long-term disease free survival in patients with a DNA repair disorder. Furthermore, we describe here, to the best of our knowledge, the first adult patient with NBS and HL." @default.
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- W2009097023 date "2014-01-16" @default.
- W2009097023 modified "2023-10-17" @default.
- W2009097023 title "An adult patient with Nijmegen Breakage Syndrome and Hodgkin's Lymphoma" @default.
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- W2009097023 doi "https://doi.org/10.1186/2052-1839-14-2" @default.
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