Publications by authors named "T A Chatila"
Article Synopsis
- DOCK8 deficiency causes most cases of autosomal recessive hyper-immunoglobulin E syndrome (HIES) due to mutations that disrupt protein expression, but some patients show symptoms without identifiable mutations.
- Researchers used Whole Exome Sequencing to discover a deep intronic DOCK8 variant in two patients that led to a significant alteration in protein structure and function.
- The findings indicate that non-coding mutations play a crucial role in immunodeficiency disorders, suggesting the need for further investigation into these types of mutations in unexplained immune system issues.
Background: Immune dysregulation and SARS-CoV-2 plasma viremia have been implicated in fatal COVID-19 disease. However, how these two factors interact to shape disease outcomes is unclear.
Methods: We carried out viral and immunological phenotyping on a prospective cohort of 280 patients with COVID-19 presenting to acute care hospitals in Boston, Massachusetts and Genoa, Italy between June 1, 2020 and February 8, 2022.
The early development of the neonatal immune system is profoundly influenced by exposure to dietary and microbial antigens, which shapes mucosal tolerance. Successful oral tolerance induction is crucially dependent on microbially imprinted immune cells, most notably the RORγt regulatory T (Treg) and antigen presenting cells and is essential for preventing food allergy (FA). The development of FA can be envisioned to result from disruptions at key checkpoints (CKPTs) that govern oral tolerance induction.
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- Common variable immunodeficiency (CVID) is a prevalent immunodeficiency condition, with only about 30% of cases having a defined genetic cause, highlighting a gap in understanding mortality risk factors.
- Researchers conducted a study on 21 patients in Córdoba, Argentina, examining their clinical data and immune cell types to develop a mortality predictive score.
- Key findings revealed that lower counts of CD4 T cells, natural killer (NK) cells, and memory switched B cells were significantly associated with reduced survival rates, leading to the proposal of a scoring system based on these immune cell types to estimate mortality risk in CVID patients.
The geopolitical conflict between Russia and Ukraine has disrupted Europe's natural gas supplies, driving up gas prices and leading to a shift towards biomass for residential heating during colder months. This study assessed the consequent air quality and toxicological impacts in Milan, Italy, focusing on fine particulate matter (PM, d < 2.5 μm) emissions.
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