Please use this identifier to cite or link to this item: http://e.ieu.edu.ua/handle/123456789/1268
Title: Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine
Authors: Boyarchuk, Oksana
Kostyuchenko, Larysa
Akopyan, Hayane
Bondarenko, Anastasiia
Volokha, Alla
Hilfanova, Anna
Savchak, Ihor
Nazarenko, Liliia
Yarema, Nataliiа
Urbas, Olhа
Hrabovska, Iryna
Lysytsia, Oleksandr
Budzyn, Andri
Tykholaz, Oksana
Ivanchuk, Marianа
Bastanohova, Olha
Patskun, Erika
Vasylenko, Nataliia
Stepanovskyy, Yuriy
Chernyshova, Liudmyla
Makukh, Halyna
Keywords: Nijmegen breakage syndrome
NBN gene
malignancies
Diagnosis
incidence
clinical analysis
immunological characterization
Issue Date: Jun-2024
Citation: Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine / Boyarchuk О. et al. Front. Immunol.,. 2024. Vol. 15. No.12. DOI:  https://doi.org/10.3389/fimmu.2024.1428724
Abstract: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, characterized by microcephaly, immunodeficiency, and impaired DNA repair. NBS is most prevalent among Slavic populations, including Ukraine. Our study aimed to comprehensively assess the prevalence, diagnosis, clinical data, immunological parameters, and treatment of NBS patients in Ukraine.
URI: http://e.ieu.edu.ua/handle/123456789/1268
Appears in Collections:Кафедра педіатрії, імунології, інфекційних і рідісних захворювань

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