Publications by authors named "Natalia Kuzmenko"
Article Synopsis
- A study analyzed genetic defects in 1809 Russian children with inborn errors of immunity (IEI), finding that 61.5% had identifiable genetic issues.
- The defects predominantly involved single gene variants (87.9%), with a significant portion of variants being novel, highlighting the genetic diversity within this population.
- Inherited patterns of defects showed a mix of autosomal dominant (29%), X-linked (34%), and autosomal recessive (37%), with notable cases of "Slavic" mutations contributing to the findings.
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.
RASopathies are disorders caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. These syndromes share features of developmental delay, facial dysmorphisms, and defects in various organs, as well as cancer predisposition. Somatic mutations of the same pathway are one of the primary causes of cancer.
View Article and Find Full Text PDFVariants 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.
View Article and Find Full Text PDFArticle Synopsis
- An increasing number of NFKB1 variants have been linked to diverse immune system issues in patients, prompting a comprehensive study of these mutations.
- The study evaluated 231 individuals with various NFKB1 mutations, identifying 56 as pathogenic, resulting in primary immunodeficiency and other immune-related problems like autoimmunity and malignancy.
- The findings highlight the need for awareness among medical professionals about this condition's complexity, recommending treatments like immunoglobulin replacement, immunosuppressants, and considering stem cell transplantation.