Background/Objectives: Inborn errors of immunity (IEIs) represent a wide spectrum of diseases characterized by a predisposition to recurrent infections, as well as increased susceptibility to autoimmune, atopic, and autoinflammatory diseases and malignancies. The aim of this study was to report the registry-based frequency and describe the clinical characteristics of IEIs among patients in the Republic of Kazakhstan. Methods: We analyzed data from 269 patients belonging to 204 families who were either self-referred or referred by healthcare providers to the University Medical Center of Nazarbayev University with suspected IEIs. All patients resided in various regions across Kazakhstan. Results: A total of 269 diagnosed cases were identified in the national registry. The estimated prevalence was 1.3 per 100,000 population. The gender ratio was nearly equal, with 139 males and 130 females. The median age at diagnosis was 5 years (range: 1 month to 70 years), while the mean age was 11.3 years. The most common diagnosis was humoral immunodeficiency, observed in 120 individuals (44.6%), followed by complement deficiencies in 83 individuals (30.8%). Combined immunodeficiencies with syndromic features were found in 35 patients (13%), and phagocytic cell defects were identified in 12 patients (4.5%). The predominant clinical manifestations included severe recurrent infections and autoimmune cytopenias, while atopic and autoinflammatory symptoms were reported less frequently. Conclusions: These findings contribute to a better understanding of the registry-based distribution and clinical spectrum of IEIs in Kazakhstan and underscore the importance of early diagnosis and targeted care for affected individuals.

Background and Aim. Staphylococcal food poisoning is caused by the consumption of food contaminated with Staphylococcus aureus and represents a global public health concern. Food products of animal origin can serve as reservoirs for multi-drug resistant strains of S. aureus. This study aimed to characterize the microbiological and molecular genetic properties of S. aureus isolated from raw horse meat. Materials and Methods. Species identification of S. aureus was performed using 16S rRNA gene analysis and matrix assisted laser desorption/ionization time-of-flight mass spectrometry. The sensitivity of the isolate to antibiotics was investigated using the disc diffusion method. Genetic determinants of resistance were identified using whole genome sequencing. High-throughput sequencing was performed on an Illumina MiSeq platform. DNA quantity was assessed spectrophotometrically, and quality was evaluated by electrophoresis on a 1% agarose gel. Genome assemblies based on short reads were obtained using SPAdes v. 4.0.0. Assembly quality assessment, organism verification, and initial annotation were performed using FastQC v.0.11.9. Antibiotic resistance genes were identified using the CARD and PATRIC databases. Results. The S. aureus 76_KZ strain was isolated from a raw horse meat sample. Morphologically, it is a Gram-positive coccus arranged in irregular clusters resembling grape bunches. The identified antibiotic resistance profile of S. aureus 76_KZ characterizes this strain as a multidrug resistant isolate with sensitivity to a limited spectrum of antibacterial drugs. This study presents the results of wholegenome sequencing of S. aureus isolated from raw horse meat in the Republic of Kazakhstan. The sequencing yielded a genome coverage of 173×. The sequenced genome of the S. aureus 76_KZ isolate, consisting of 2.616.354 bp, has been deposited in the GenBank genetic database under accession number JBNBZR000000000.1. Conclusion. The whole-genome data obtained for S. aureus 76_KZ enable the assessment of the isolate's resistance to antimicrobial drugs and facilitate the identification of genetic features relevant to epidemiological typing.

The development of the aquaculture industry, like any industrial cycle, is accompanied by the danger of infectious diseases due to an increase in species per unit area. The problem is intensified by the fact that aquaculture usually uses water from a body of water adjacent to the production reservoirs. This caused the virus, which has no epidemic potential in the ecosystem due to the sufficiently rare contact of individuals of the same species, to acquire marked pathogenic properties. At the same time, some new viral pathogens cannot be cultured and specific antibodies to them cannot be obtained, which makes it impossible to identify them using traditional methods of cell culture or immunoassay. Metagenomic studies are a relatively new multifaceted tool for studying and identifying single viral infections or co-infections of different aquatic organisms, conducting evolutionary and phylogenetic analysis of viruses, determining their genomic diversity, and conducting epidemiological monitoring of viral infections. The presented article shows brief results of the work on determining the diversity of fish viruses in the Central Caspian water area obtained during metagenomic studies using NGS. The presence of a number of RNA- and DNA-containing viruses of potential danger in the development of aquaculture in the region was shown. Keywords: Caspian Sea, metagenomics, virome, fish viruses, diversity.

Background/Objectives: Hereditary anomalies in the TYK2 gene are the basis of a rare primary immunodeficiency, immunodeficiency-35, typified by an augmented vulnerability to mycobacterial and viral infections. Clinical overlap with chronic granulomatous disease (CGD) and other granulomatous disorders complicates diagnosis, particularly in nations where universal BCG vaccination is instituted. We present a pediatric case from Kazakhstan to broaden the clinical and molecular spectrum of TYK2-related immunodeficiency and accentuate diagnostic challenges. Methods: The proband underwent clinical assessment, immunophenotyping, and biochemical analysis during episodes of active pathology and subsequent follow-up. Whole-exome sequencing (WES) was executed, followed by confirmatory Sanger sequencing and segregation analysis in first-degree kin. Functional assays for phagocyte oxidative burst and phagocytosis were conducted to exclude CGD. Results: WES identified two rare TYK2 variants (c.209_212del, pathogenic; c.2395G>A, previously reported as pathogenic in a Chinese patient with TYK2 deficiency) and a heterozygous MEFV duplication (c.761_764dup). Paternal DNA was unavailable; therefore, allelic phase could not be formally established, but the combined genotype and phenotype are consistent with autosomal recessive TYK2 deficiency. Sanger sequencing confirmed segregation of the frameshift TYK2 variant in the mother, while the clinically healthy brother carried only the wild-type allele. The missense alteration was exclusive to the proband. Conclusions: This case exemplifies the significance of contemplating TYK2 deficiency in pediatric patients with refractory mycobacterial infections, particularly in BCG-endemic locales. Genetic validation provided a definitive diagnosis, differentiating the condition from CGD and informing patient management. To our knowledge, this constitutes one of the inaugural genetically confirmed instances of TYK2 deficiency in Central Asia, enhancing regional epidemiological comprehension and emphasizing the role of molecular diagnostics in directing treatment and vaccination policies.

Разнообразие вариантов вируса инфекционного бронхита птиц создает определенные трудности при вакцинации. Поэтому поиск новых методов подавления репродукции вируса является важной проблемой в птицеводстве. Вирус инфекционного бронхита птиц это острое высококонтагиозное вирусное заболевание, преимущественно цыплят, сопровождающееся поражением органов дыхания у молодняка и потерей продуктивности у взрослых кур-несушек. Поиск лекарственных средств, которые способны подавлять активность вирусов дает возможность искать таковые среди лекарственных растении. Использование лекарственных растений является важной темой как для фармацевтики, так и для медицины в целом. Многие вирусы выработали устойчивость к существующим препаратам, поэтому имеет смысл изучать растения, которые содержат биологически активные соединения, способные подавлять вирусную активность. Благодаря большому количеству активных соединении, Alnus incana, Hedysarum neglectum, Polygonum aviculare и Alhagi pseudalhagi являются перспективными растениями для создания противовирусных препаратов. Цель исследования - показать возможность использования экстрактов некоторых растений для подавления репродукции вируса инфекционного бронхита птиц. Показано, что в дозе от 3 до 4 мкг/мл растительные экстракты серой ольхи, красного корня, горца птичьего и верблюжьей колючки способны на 50 % подавлять репродуктивную активность вируса инфекционного бронхита птиц.

Background/Objectives: Inborn errors of immunity (IEIs), formerly known as primary immunodeficiency disorders, are a heterogeneous group of genetic diseases characterized by recurrent infections and multisystem involvement. Although more than 500 distinct entities have been identified, reports from Central Asia remain scarce. This study describes two rare pediatric IEI cases from Kazakhstan, highlighting the importance of genomic diagnostics in underrepresented regions. Methods: Two unrelated male patients with early-onset recurrent infections and systemic complications were evaluated at the University Medical Center, Astana. Clinical and laboratory assessments included immunophenotyping, imaging, and histopathology. Whole-genome sequencing (WGS) was performed, followed by Sanger confirmation and segregation analysis when feasible. Variants were classified according to ACMG/AMP guidelines. Results: The first case involved a child with recurrent bronchopulmonary disease, pulmonary fibrosis, and connective tissue abnormalities, found to carry a novel homozygous FBLN5:c.53del frameshift variant consistent with autosomal recessive cutis laxa type 1A. The second case concerned an adolescent with progressive neurodegeneration, granulomatous skin lesions, and chronic pancreatitis, who was identified with a heterozygous pathogenic ATM:c.4828dup variant, confirming ataxia–telangiectasia. Both patients required lifelong subcutaneous immunoglobulin therapy. Consanguinity contributed to the genetic risk in the first case, while the second case demonstrated diagnostic delays that emphasized the value of genetic testing. Conclusions: These cases underscore the clinical heterogeneity of IEIs and illustrate the essential role of genomic diagnostics in elucidating atypical presentations. Documenting rare variants and unconventional phenotypes enhances global knowledge, elevates awareness in resource-limited regions, and emphasizes the necessity for early, multidisciplinary care and the enhancement of national registries for rare immunogenetic disorders.