Search Results - "Shvets, Oksana A"
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1
Primary Immunodeficiencies in Russia: Data From the National Registry
Published in Frontiers in immunology (06-08-2020)“…Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Characterization of epidemiological and clinical…”
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Genetic and Clinical Features of Shwachman-Diamond Syndrome in Russian Population: Prospective Study
Published in Voprosy sovremennoĭ pediatrii (05-01-2020)“…Background. Shwachman-Diamond syndrome (SDS) is the rare genetic autosomal recessive disorder with pathogenic variants in SBDS gene. The spectrum of SBDS gene…”
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Journal Article -
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Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
Published in Journal of allergy and clinical immunology (01-10-2023)“…Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of immunity (IEI) with infection susceptibility and immune dysregulation, clinically…”
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Journal Article