Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study

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art_REIS_Rare_genetic_variants_involved_in_multisystem_inflammatory_syndrome_2023.PDF (1.71 MB)
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0
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article
Data de publicação
2023
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
FRONTIERS MEDIA SA
Autores
REIS, Barbara Carvalho Santos Dos
FACCION, Roberta Soares
CARVALHO, Flavia Amendola Anisio de
MOORE, Daniella Campelo Batalha Cox
ZUMA, Maria Celia Chaves
PLACA, Desiree Rodrigues
FILGUEIRAS, Igor Salerno
FONSECA, Dennyson Leandro Mathias
BONOMO, Adriana Cesar
Citação
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY, v.13, article ID 1182257, 16p, 2023
Projetos de Pesquisa
Unidades Organizacionais
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Resumo
IntroductionDespite the existing data on the Multisystem Inflammatory Syndrome in Children (MIS-C), the factors that determine these patients evolution remain elusive. Answers may lie, at least in part, in genetics. It is currently under investigation that MIS-C patients may have an underlying innate error of immunity (IEI), whether of monogenic, digenic, or even oligogenic origin. MethodsTo further investigate this hypothesis, 30 patients with MIS-C were submitted to whole exome sequencing. ResultsAnalyses of genes associated with MIS-C, MIS-A, severe covid-19, and Kawasaki disease identified twenty-nine patients with rare potentially damaging variants (50 variants were identified in 38 different genes), including those previously described in IFNA21 and IFIH1 genes, new variants in genes previously described in MIS-C patients (KMT2D, CFB, and PRF1), and variants in genes newly associated to MIS-C such as APOL1, TNFRSF13B, and G6PD. In addition, gene ontology enrichment pointed to the involvement of thirteen major pathways, including complement system, hematopoiesis, immune system development, and type II interferon signaling, that were not yet reported in MIS-C. DiscussionThese data strongly indicate that different gene families may favor MIS- C development. Larger cohort studies with healthy controls and other omics approaches, such as proteomics and RNAseq, will be precious to better understanding the disease dynamics.
Palavras-chave
multisystem inflammatory syndrome in children, pediatric inflammatory multisystem syndrome, coronavirus infection, mucocutaneous lymph node syndrome, Kawasaki disease, whole exome sequencing
URI
https://observatorio.fm.usp.br/handle/OPI/55969
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - COVID-19
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/29