| Author | Pedro, R. B. D. S. | |
| Author | Siqueira, R. F. D. J. | |
| Author | Barreto, T. M. M. de | |
| Author | Bellinat, A. P. N. | |
| Author | Britto, G. D. S. G. | |
| Author | Amaral, E. H. B. | |
| Author | Guedes, C. E. S. | |
| Author | Araujo, S. N. D. O. | |
| Author | Tavares, N. M. | |
| Author | Vasconcelos, L. R. S. | |
| Author | Oliveira, P. R. S. | |
| Access date | 2024-07-05T13:52:33Z | |
| Available date | 2024-07-05T13:52:33Z | |
| Document date | 2023 | |
| Citation | PEDRO, R. B. D. S. et al. Genetic screening of autoinflammatory genes in Latin American pediatric patients with Multisystem Inflammatory Syndrome in Children (MIS-C) associated with SARS-CoV-2 infection. In: CONGRESS OF THE BRAZILIAN SOCIETY OF IMMUNOLOGY, 46, 2023, Ouro Preto, MG. Anais eletrônicos [...] Ouro Preto, MG: SBI, 02 a 6 de outubro de 2023. p.1-33. | en_US |
| URI | https://www.arca.fiocruz.br/handle/icict/64852 | |
| Language | eng | en_US |
| Publisher | Sociedade Brasileira de Imunologia | en_US |
| Rights | open access | en_US |
| Subject in Portuguese | MIS-C | en_US |
| Subject in Portuguese | Autoinflamatório | en_US |
| Subject in Portuguese | Genética | en_US |
| Title | Genetic screening of autoinflammatory genes in Latin American pediatric patients with Multisystem Inflammatory Syndrome in Children (MIS-C) associated with SARS-CoV-2 infection | en_US |
| Type | Papers presented at events | en_US |
| Abstract | Background: Multisystem Inflammatory Syndrome in Children (MIS-C) is an inflammatory condition associated with SARS-CoV-2 infection. It is characterized by fever, prominent gastrointestinal symptoms, mucocutaneous manifestations, and patients often present with shock. The occurrence of MIS-C may be associated with congenital defects of immunity. The aim of this study is to identify variants in genes involved in primary autoinflammatory conditions that may be implicated in MIS-C. Methods: Cells and clinical and laboratory information were collected from 21patients with MIS-C, recruited from three public hospitals in the Northeast region of Brazil. The cases of MIS-C were classified as severe or moderate, considering, respectively, the need or not for Positive Pressure Ventilation (PPV) and/or vasopressor medication. Then, total exome sequencing (WES) of the individuals was performed and the identified Individual Nucleotide Variants (SNVs) were subjected to an Inborn Errors of Immunity (IEI) prioritization strategy, focusing on 56 genes previously implicated in auto- inflammatory diseases (made available by the Immunity Committee of the International Union of Immunological Societies, 2022). Results: 6 SNVs were identified in 5 different genes (ADAM17, CARD14, IKBKG, PSTPIP1 and SH3BP12). All these variants have been found in children/adolescents with the severe form of MIS-C. Notably, two variants (rs1200631089 and rs144458353) were selected in the ADAM17 gene. This gene encodes a protease implicated in the processing of tumor necrosis factor alpha (TNF-α) and plays a key role in SARS-CoV-2 infection by cleaving the Angiotensin-Converting Enzyme 2 (ACE-2), the main human receptor for SARS-CoV-2. Conclusions: Our data suggest that rare deleterious variants in genes previously implicated in autoinflammatory conditions, including ADAM17, IKBKG, PSTPIP1, SH3BP2 and CARD14, may explain the occurrence of SIM-P in previously healthy Latin American children and adolescents. | en_US |
| Affilliation | Universidade Federal da Bahia. Salvador, BA, Brasil. | en_US |
| Affilliation | Universidade Federal da Bahia. Salvador, BA, Brasil. | en_US |
| Affilliation | Universidade Federal da Bahia. Salvador, BA, Brasil. | en_US |
| Affilliation | Hospital Martagão Gesteira. Salvador, BA, Brasil. | en_US |
| Affilliation | Universidade Federal da Bahia. Salvador, BA, Brasil. | en_US |
| Affilliation | Universidade Federal da Bahia. Salvador, BA, Brasil. | en_US |
| Affilliation | Universidade Federal da Bahia. Salvador, BA, Brasil. | en_US |
| Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Salvador, BA, Brasil. | en_US |
| Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Salvador, BA, Brasil. | en_US |
| Affilliation | Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Recife, PE, Brasil. | en_US |
| Affilliation | Universidade Federal da Bahia. Salvador, BA, Brasil. | en_US |
| Subject | MIS-C | en_US |
| Subject | Auto inflammatory | en_US |
| Subject | Genetic | en_US |
| DeCS | genética | en_US |
