A new version of ResearchHub is available.Try it now
Healthy Research Rewards
ResearchHub is incentivizing healthy research behavior. At this time, first authors of open access papers are eligible for rewards. Visit the publications tab to view your eligible publications.
Got it
AV
Alla Volokha
Author with expertise in Natural Killer Cells in Immunity
Achievements
Open Access Advocate
Key Stats
Upvotes received:
0
Publications:
1
(100% Open Access)
Cited by:
0
h-index:
16
/
i10-index:
25
Reputation
Biology
< 1%
Chemistry
< 1%
Economics
< 1%
Show more
How is this calculated?
Publications
0

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

Ruud Nijman et al.Nov 22, 2024
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 a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.2, 95% CI: 3.5-5.3, P < 10-6). BTNL8 encodes an intestinal epithelial regulator of Vγ4+γδ T cells implicated in regulating gut homeostasis. Enrichment was exclusive to MIS-C, being absent in patients with COVID-19 or bacterial disease. Using an available functional test for BTNL8, rare variants from a larger cohort of MIS-C patients (n = 835) were tested which identified eight variants in 18 patients (2.2%) with impaired engagement of Vγ4+γδ T cells. Most of these variants were in the B30.2 domain of BTNL8 implicated in sensing epithelial cell status. These findings were associated with altered intestinal permeability, suggesting a possible link between disrupted gut homeostasis and MIS-C-associated enteropathy triggered by SARS-CoV-2.