Publications by authors named "Liudmyla I Chernyshova"
Key Clinical Message: Partial leukocyte adhesion deficiency type 1 (LAD-1) deficiency is extremely rare condition with milder infectious manifestation and immune system imbalance leads to increased risks of autoinflammatory complications, such as pyoderma gangrenosum, that can be triggered by trauma or pregnancy. In patients with spice-site ITGB2 variants, partial expression can occur due to different β2 integrin isophorms expression.
Abstract: LAD-1, OMIM ID #116920 is a rare, autosomal recessive disorder that results from mutations in the gene that encodes the CD18 β2 integrin subunit.
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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- Rotavirus remains a significant health issue for children under 5 in Ukraine, with surveillance conducted in Kyiv and Odesa to track its impact and aid in vaccine planning.
- From 2007 to 2015, out of 12,350 children hospitalized for acute gastroenteritis, 44% tested positive for rotavirus, with higher rates in Kyiv compared to Odesa, particularly during winter months.
- Children with rotavirus infections exhibited more severe symptoms, and various genotypes were identified, highlighting the need for ongoing monitoring and public health initiatives.
Background: Omenn syndrome [Mendelian Inheritance (OMIM 603554)] is a genetic disease of the immune system, characterized by the presence of fatal generalized severe erythroderma, lymphoadenopathy, eosinophilia and profound immunodeficiency.
Objective: We studied clinical and immunologic presentation of the disease manifestation among East Slavs population with genetically confirmed Omenn syndrome.
Results: We collected clinical and immunologic data of 11 patients (1 from Belarus, 5--Ukraine, 5--Russia): 6 females, 5 males.