Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Intestinal Permeability
Homeostasis
DOI:
10.1084/jem.20240699
Publication Date:
2024-11-22T14:58:38Z
AUTHORS (766)
ABSTRACT
Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized novel statistical framework gene burden analysis, "burdenMC," which identified an enrichment for predicted-deleterious variants BTNL8 (OR = 4.2, 95% CI: 3.5-5.3, P < 10-6). encodes epithelial regulator Vγ4+γδ T cells implicated regulating gut homeostasis. Enrichment was exclusive to MIS-C, being absent COVID-19 or bacterial disease. Using available functional test BTNL8, from larger cohort (n 835) were tested eight 18 (2.2%) impaired engagement cells. Most these B30.2 domain sensing cell status. These findings altered permeability, suggesting possible link between disrupted homeostasis MIS-C-associated enteropathy triggered by SARS-CoV-2.
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