Publications by authors named "Svetlana N Aleshkevich"
Article Synopsis
- * In a study of 9 individuals from 3 families, two variants of AIOLOS (Q402* and E82K) were found to cause haploinsufficiency through different mechanisms, affecting the protein’s DNA binding and stability.
- * Patients with AIOLOS haploinsufficiency experienced symptoms like reduced immune response, recurrent infections, and autoimmunity, highlighting the broader implications of AIOLOS mutations on health.
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 Svetlana N Aleshkevich
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.
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