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https://www.selleckchem.com/products/Roscovitine.html In recent years, accumulated numerous data on the pathogenetic links of the formation of arterial hypertension. A number of studies have shown that vitamin D deficiency, associated with age, changes in sex hormonal status, increased tone of the reninangiotensin-aldosterone system, endothelial dysfunction, and calcium metabolism, can be one of the mechanisms of development and progression of arterial hypertension. The purpose of the review was to summarize the results of the original domestic and foreign studies, prospective observations and meta-analyzes on the relationship between vitamin D deficiency and arterial hypertension.BACKGROUND Lipopolysaccharide-responsive and beige-like anchor (LRBA) deficiency is a rare autosomal recessive common variable immunodeficiency (CVID), affecting 125,000-150,000 people worldwide. Biallelic mutations in the gene LRBA have been implicated in affected individuals. METHODS We report a 16-year-old Vietnamese, male patient with recurrent CVID symptoms including chronic diarrhea, interstitial pneumonia, cutaneous granulomatous lesions, hepatosplenomegaly, and finger clubbing. Immunological analyses and whole exome sequencing (WES) were performed to investigate phenotypic and genotypic features. RESULTS Immunological analyses revealed hypogammaglobulinemia and low ratios of CD4+/CD8+ T cells. Two novel compound heterozygous stop-gain mutation in LRBA were identified c.1933C > T (p.R645X) and c.949C > T (p.R317X). Sanger sequencing confirmed the segregation of these variants from the intact parents. The abolished LRBA protein expression was shown by immunoblot analysis. Subsequent treatment potentially saves the child from the same immune thrombocytopenia which led to his brother's untimely death; likely caused by the same LRBA mutations. CONCLUSION This first report of LRBA deficiency in Vietnam expands our knowledge of the diverse phenotypes and genotypes driving CVID. Finally, t
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