Publications by authors named "V Barlogis"
Purpose: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance.
View Article and Find Full Text PDFMultisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.
View Article and Find Full Text PDFArticle Synopsis
- Researchers studied mutations in a gene that affects a key protein involved in cell signaling, which is linked to severe health issues like impaired immunity in patients.
- The mutations were found to disrupt normal cell behavior by promoting excessive cell growth and responses to immune signals, specifically T cell receptor stimulation.
- The mutant protein was shown to interfere with a regulatory protein, leading to heightened activity of important signaling pathways that contribute to cell growth and survival.
Article Synopsis
- The study reviewed publications on patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) linked to TTC7A abnormalities, analyzing their health outcomes, treatment, and genetic factors.
- Findings revealed a high mortality rate of 65.8% among 83 patients, with an average age of death at about 11.8 months; three phenotypic groups were observed, each with varying mortality rates.
- Genotype associations were identified, particularly the NS/NS and MS/MS variants, linked to specific phenotypes, while limited effective treatments were noted, indicating a need for better therapeutic strategies.