Publications by authors named "Rasheed Bailey"
Severe defects in human IFNγ immunity predispose individuals to both Bacillus Calmette-Guérin disease and tuberculosis, whereas milder defects predispose only to tuberculosis. Here we report two adults with recurrent pulmonary tuberculosis who are homozygous for a private loss-of-function TNF variant. Neither has any other clinical phenotype and both mount normal clinical and biological inflammatory responses.
View Article and Find Full Text PDFArticle Synopsis
- The study identifies two cases of herpes simplex virus 1 (HSV-1) encephalitis in children linked to rare genetic variants of the TMEFF1 gene, which plays a protective role in the brain.
- TMEFF1 protein interacts with the HSV-1 receptor NECTIN-1, blocking the virus's ability to enter brain cells, but genetic deficiencies in TMEFF1 allow for easier viral entry and replication within neurons.
- The research suggests that enhancing TMEFF1 levels or using type I interferon can restore resistance to HSV-1, indicating a potential therapeutic pathway for preventing HSV-1 encephalitis.
Article Synopsis
- Inborn errors affecting the immune response to IFN-γ lead to mycobacterial diseases, while errors in IFN-α/β impact defense against viral infections.
- A study of children with complete IRF1 deficiency showed they suffered from severe mycobacterial infections but displayed normal responses to various viruses, including SARS-CoV-2.
- IRF1 plays a crucial role in the immune response to mycobacteria, enhancing IFN-γ responses, while its absence does not significantly hinder antiviral defenses associated with IFN-α/β.
Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of , , or in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)-sensing OAS1 and OAS2 generate 2'-5'-linked oligoadenylates (2-5A) that activate the single-stranded RNA-degrading ribonuclease L (RNase L).
View Article and Find Full Text PDFPulmonary arterial hypertension (PAH) is a progressive disease characterized by increased pulmonary vascular resistance (PVR), causing right ventricular hypertrophy and ultimately death from right heart failure. Heterozygous mutations in the bone morphogenetic protein receptor type 2 () are linked to approximately 80% of hereditary, and 20% of idiopathic PAH cases, respectively. While patients carrying a gene mutation are more prone to develop PAH than non-carriers, only 20% will develop the disease, whereas the majority will remain asymptomatic.
View Article and Find Full Text PDFObjective: Gene therapy is a promising approach in the treatment of cardiovascular diseases. Preclinical and clinical studies have demonstrated that adeno-associated viral vectors are the most attractive vehicles for gene transfer. However, preexisting immunity, delayed gene expression, and postinfection immune response limit the success of this technology.
View Article and Find Full Text PDFArticle Synopsis
- * In human skin, all beta-type connexins have a conserved glycine at position 12 (G12), and changes to this specific amino acid can disrupt connexin function, leading to various cellular issues.
- * Alterations at G12 are linked to hereditary skin disorders like keratitis ichthyosis and erythrokeratodermia variabilis, caused by mutations that impact the protein's structure and function.