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ABSTRACT: Objectives
The X-chromosome contains the largest number of immune-related genes, which play a major role in COVID-19 symptomatology and susceptibility. Here, we had a unique opportunity to investigate, for the first time, COVID-19 outcomes in six unvaccinated young Brazilian patients with Turner syndrome (TS; 45, X0), including one case of critical illness in a child aged 10 years, to evaluate their immune response according to their genetic profile.Methods
A serological analysis of humoral immune response against SARS-CoV-2, phenotypic characterization of antiviral responses in peripheral blood mononuclear cells after stimuli, and the production of cytotoxic cytokines of T lymphocytes and natural killer cells were performed in blood samples collected from the patients with TS during the convalescence period. Whole exome sequencing was also performed.Results
Our volunteers with TS showed a delayed or insufficient humoral immune response to SARS-CoV-2 (particularly immunoglobulin G) and a decrease in interferon-γ production by cluster of differentiation (CD)4+ and CD8+ T lymphocytes after stimulation with toll-like receptors 7/8 agonists. In contrast, we observed a higher cytotoxic activity in the volunteers with TS than the volunteers without TS after phorbol myristate acetate/ionomycin stimulation, particularly granzyme B and perforin by CD8+ and natural killer cells. Interestingly, two volunteers with TS carry rare genetic variants in genes that regulate type I and III interferon immunity.Conclusion
Following previous reports in the literature for other conditions, our data showed that patients with TS may have an impaired immune response against SARS-CoV-2. Furthermore, other medical conditions associated with TS could make them more vulnerable to COVID-19.
SUBMITTER: de Castro MV
PROVIDER: S-EPMC9905041 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
de Castro Mateus V MV Silva Monize V R MVR Oliveira Luana de M LM Gozzi-Silva Sarah C SC Naslavsky Michel S MS Scliar Marilia O MO Magalhães Monize L ML da Rocha Katia M KM Nunes Kelly K Castelli Erick C EC Magawa Jhosiene Y JY Santos Keity S KS Cunha-Neto Edecio E Sato Maria N MN Zatz Mayana M
International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 20230208
<h4>Objectives</h4>The X-chromosome contains the largest number of immune-related genes, which play a major role in COVID-19 symptomatology and susceptibility. Here, we had a unique opportunity to investigate, for the first time, COVID-19 outcomes in six unvaccinated young Brazilian patients with Turner syndrome (TS; 45, X0), including one case of critical illness in a child aged 10 years, to evaluate their immune response according to their genetic profile.<h4>Methods</h4>A serological analysis ...[more]