Publications by authors named "J Verbsky"
X chromosome inactivation (XCI) balances X-linked gene dosage between sexes. Unstimulated T cells lack cytological enrichment of X-inactive specific transcript (Xist) RNA and heterochromatic modifications on the inactive X chromosome (Xi), which are involved in maintenance of XCI, and these modifications return to the Xi after stimulation. Here, we examined allele-specific gene expression and epigenomic profiles of the Xi in T cells.
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- Trichothiodystrophy-1 (TTD1) is an autosomal-recessive disease linked to mutations in a gene important for DNA repair and transcription, leading to increased susceptibility to infections in affected patients.
- The study examined the immune system and DNA repair capabilities of three TTD1 patients, revealing issues such as low antibody responses, problems with B-cell proliferation, and accumulation of DNA damage markers.
- Findings indicated that TTD1 is associated with antibody deficiencies due to impaired B-cell development and function, confirming the impact of new mutations on the immune system.
Recurrent exposures to a pathogenic antigen remodel the CD8 T cell compartment and generate a functional memory repertoire that is polyclonal and complex. At the clonotype level, the response to the conserved influenza antigen, M1 has been well characterized in healthy individuals, but not in patients receiving immunosuppressive therapy or with aberrant immunity, such as those with juvenile idiopathic arthritis (JIA). Here we show that patients with JIA have a reduced number of M1 specific RS/RA clonotypes, indicating decreased clonal richness and, as a result, have lower repertoire diversity.
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- The CDC and ACIP endorse COVID-19 vaccination for patients with inborn errors of immunity (IEI), but there's limited knowledge on its safety and impact on infection severity in these patients.
- A study involving a registry of 1,245 IEI patients across 24 countries was conducted to gather data on vaccination frequency, safety, and effectiveness, revealing that 64.7% were vaccinated, primarily with mRNA vaccines.
- Results showed that vaccinated patients had significantly lower hospitalization and ICU admission rates when infected with COVID-19, indicating that vaccination is both safe and effective in reducing the severity of the disease in IEI patients.