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

ABSTRACT:

Introduction

Despite 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.

Methods

To further investigate this hypothesis, 30 patients with MIS-C were submitted to whole exome sequencing.

Results

Analyses 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 gen

SUBMITTER: Reis BCSD 

PROVIDER: S-EPMC10426286 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature