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Primary Immunodeficiencies (PI) include more than 550 monogenic disorders presenting with recurrent infections, autoimmunity, and significant morbidity. Early molecular diagnosis is essential for guiding targeted treatme...

Abstract Background Chianina, Romagnola, and Marchigiana are the 3 most important Italian breeds of cattle raised in the Apennine Mountains. Inherited disorders have been reported in the Chianina and Romagnola breeds but...

Abstract Rare disease gene discovery is limited by small cohorts and the frequent absence of matched controls. We present the Case-Only Burden Test (COBT), a gene-based burden test for case-only designs accounting for mu...

Abstract Immune system dysregulation is implicated in a wide range of human diseases, including cancer. Genetic studies have shown evidence of a link between immune diseases and cancer; therefore, deficits of immune syst...

The article examines the features of the use of family medical history for assessing insurance risks in life insurance and health insurance (including health insurance), and also identifies the main problematic aspects a...

Abstract Background Type 1 diabetes (T1D) is a lifelong autoimmune condition characterised by the progressive immune-mediated destruction of insulin-secreting β-cells within the pancreatic islets, culminating in absolut...

The article presents the results of a study of polymorphism in the Ukrainian Brown breed (UB) for the BoLA-DRB3 gene. Experimental data were obtained using the PCR-PCRF method. The genotypes of the animals were determine...

Abstract Background Current understanding of the fluid biomarker profile in early-onset Alzheimer’s disease (EOAD) associated with pathogenic APP variants remains limited. We characterized four EOAD pedigrees carrying ...

Abstract Background Epidemiological data consistently associate low vitamin D status with elevated cardiovascular risk, yet causal mechanisms remain contested. Methods This review synthesized evidence through a protocol-...

La osteoporosis es un trastorno para tener en cuenta en niños con patologías crónicas graves o con algunas enfermedades genéticas que predisponen al incremento de la fragilidad ósea. La osteoporosis primaria es una ...

Abstract Background Studies have shown that autophagy was closely involved in host defense against mycobacteria, and genetic variations in autophagy genes were related to susceptibility to multiple diseases. We conducted...

BackgroundNewborn screening (NBS) with kappa-deleting recombination excision circles (KRECs) is primarily used to detect B cell lymphopenia and agammaglobulinemia as markers of inborn errors of immunity (IEIs). However, ...

ABSTRACT Background and Aims The KCNK17 gene encodes k2p17.1 channels (TASK‐4 or TALK‐2) with dominant expressions in the atria and the Purkinje fibers. Emerging studies have suggested possible associations between K...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

Objective. To assess risk factors associated with systemiclupus erythematosus (SLE) in the Mexican population. Materialand Methods. A case-control study was conductedon June 1996, at the Reumathology Clinic of Hospital d...

Richness and diversity of parasites depend on a set of interrelated factors related to the characteristics of the host, the environment and the parasites itself. In the City of Buenos Aires, rodent communities vary accor...

Background and AimsCHARGE syndrome (OMIM#214800) is a rare hereditary monogenic disease with an autosomal-dominant pattern of inheritance. It is characterized by multiple congenital malformations and is caused by pathoge...

Inborn errors of immunity (IEI) can manifest with neurological disorders, indicating genetic overlap between immune and nervous system diseases. However, neurological disorder genes are rarely screened systematically for...

The gut microbiota has co-evolved with its host and forms an essential component of the human body. It is acquired at birth and continues to develop alongside the host, preserving its diversity and stability throughout l...

The purpose of the review is to analyze the results of scientific research on the effect of antioxidant activity of potatoes on human health, to consider modern approaches to breeding potato with high antioxidant activit...

Abstract Objective Carrot (Daucus carota) is a widely cultivated vegetable crop with high nutritional value. Alternaria is one of the most damaging fungal pathogens to carrots, responsible for diseases such as leaf bligh...

A 5-year-old female presented at age 2 with recurrent respiratory and ear infections, aphthous ulcers, and severe neutropenia (absolute neutrophil count [ANC] = 400 cells/mcl). Immunological testing at age 4 showed neutr...

IntroductionThe T cell receptor excision circle (TREC) assay is an effective neonatal screening tool for severe combined immunodeficiency (SCID), enabling early diagnosis and timely intervention. While genetic analysis o...

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare and progressive neurodegenerative disorder, distinguished by extreme clinical heterogeneity that frequently results in diagnostic delays. Whil...