Publications by authors named "Natalia B Kuzmenko"
Article Synopsis
- - Mutations in the RAC2 protein are linked to various immune disorders in patients, including neonatal SCID and infantile diseases resembling leukocyte adhesion deficiency, with 15 new mutations identified among 54 patients studied.
- - The study highlighted that different types of mutations in RAC2 influenced disease outcomes; for instance, certain mutations led to neonatal SCID while others caused later-onset combined immune deficiency or LAD-like diseases.
- - Clinical analysis revealed significant immune system issues among affected patients, including low levels of T and B cells, recurrent infections, and abnormalities in neutrophil function, indicating severe impacts on their immune response.
Variants in recombination-activating genes () are common genetic causes of autosomal recessive forms of combined immunodeficiencies (CID) ranging from severe combined immunodeficiency (SCID), Omenn syndrome (OS), leaky SCID, and CID with granulomas and/or autoimmunity (CID-G/AI), and even milder presentation with antibody deficiency. We aim to estimate the incidence, clinical presentation, genetic variability, and treatment outcome with geographic distribution of patients with the defects in populations inhabiting South, West, and East Slavic countries. Demographic, clinical, and laboratory data were collected from -deficient patients of Slavic origin via chart review, retrospectively.
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