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BackgroundWe previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvac ...
Human transforming growth factor beta-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins. An alteration in cel ...
Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominat ...
Susceptibility to obesity in today′s environment has a strong genetic component. Lower socioeconomic position (SEP) is associated with a higher risk of obesity but it is not known if it accentuates genetic susceptibility to obesity. We aimed to use up to 1 ...
Genetic variations of the alpha7 subunit of the nicotinergic acetylcholine receptor gene (CHRNA7) are linked to cognitive deficits in aging and schizophrenia. However, little is known about associations of the CHRNA7 gene with aged-related decline in visua ...
Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with bial ...
Background Metabolic syndrome (MetS) associated with psychiatric disorders and psychotropic treatments represents a major health issue. 11 beta-Hydroxysteroid dehydrogenase type 1 (11 beta-HSD1) is an enzyme that catalyzes tissue regeneration of active cor ...
Two cases of neonatal group B streptococcal (GBS) infection occurring in a large consanguineous kindred are described. The observation suggests that susceptibility to isolated GBS disease in this family may have been the result of an inborn error of immuni ...
The future of medicine lies in therapeutic approaches that can specifically target sites of disease and induce a localized and effective therapeutic effect. Cell-mediated delivery, especially using cells of the circulatory repertoire such as T lymphocytes, ...
Only a small proportion of newborn infants exposed to a pathogenic microorganism develop overt infection. Susceptibility to infection in preterm infants and infants with known comorbidities has a likely multifactorial origin and can be often attributed to ...