Publications by authors named "Ihor Savchak"
Article Synopsis
- Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder primarily affecting Slavic populations, particularly in Ukraine, and is marked by symptoms such as microcephaly, immunodeficiency, and impaired DNA repair.
- A study of 84 NBS patients from Ukraine revealed that about 65.5% were alive, with a median age of 11 years; the prevalence of NBS diagnoses has shown a recent increase, especially from central and southeastern regions of the country.
- Clinical findings indicated that most patients experienced delayed physical development and infections, with malignancies (especially lymphomas) being a significant cause of death; immunological analysis showed reduced CD4+, CD19+, and immunoglobulin levels in the
Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and Founder Variant c.657_661del5.
Svetlana O Sharapova Olga E Pashchenko Anastasiia V Bondarenko Svetlana S Vakhlyarskaya Tatjana Prokofjeva Ihor Savchak
Front Immunol
June 2021
Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The majority of NBS patients are identified with a homozygous five base pair deletion in the ( gene (c.657_661del5, p.
View Article and Find Full Text PDF