Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Bellos, E; Santillo, D; Vantourout, P; Jackson, HR; Duret, A; Hearn, H; Seeleuthner, Y; Talouarn, E; Hodeib, S; Patel, H; Powell, O; Yeoh, S; Mustafa, S; Habgood-Coote, D; Nichols, S; Estramiana, Elorrieta, L; D'Souza, G; Wright, VJ; Estrada-Rivadeneyra, D; Tremoulet, AH; Dummer, KB; Netea, SA; Condino-Neto, A; Lau, YL; Núñez, Cuadros, E; Toubiana, J; Holanda, Pena, M; Rieux-Laucat, F; Luyt, CE; Haerynck, F; Mège, JL; Chakravorty, S; Haddad, E; Morin, MP; Metin, Akcan, Ö; Keles, S; Emiroglu, M; Alkan, G; Tüter, Öz, SK; Elmas, Bozdemir, S; Morelle, G; Volokha, A; Kendir-Demirkol, Y; Sözeri, B; Coskuner, T; Yahsi, A; Gulhan, B; Kanik-Yuksek, S; Bayhan, GI; Ozkaya-Parlakay, A; Yesilbas, O; Hatipoglu, N; Ozcelik, T; Belot, A; Chopin, E; Barlogis, V; Sevketoglu, E; Menentoglu, E; Gayretli, Aydin, ZG; Bloomfield, M; AlKhater, SA; Cyrus, C; Stepanovskiy, Y; Bondarenko, A; Öz, FN; Polat, M; Fremuth, J; Lebl, J; Geraldo, A; Jouanguy, E; Carter, MJ; Wellman, P; Peters, M; Pérez, de, Diego, R; Edwards, LA; Chiu, C; Noursadeghi, M; Bolze, A; Shimizu, C; Kaforou, M; Hamilton, MS; Herberg, JA; Schmitt, EG; Rodriguez-Palmero, A; Pujol, A; Kim, J; Cobat, A; Abel, L; Zhang, SY; Casanova, JL; Kuijpers, TW; Burns, JC; Levin, M; Hayday, AC; Sancho-Shimizu, V, , COVID-19, Human, Genetic, Effort;DIAMONDS;EUCLIDS.
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
J Exp Med. 2024; 221(12):
Doi: 10.1084/jem.20240699
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
- Study Group Members Med Uni Graz:
- Bauchinger Sebastian
- Benesch Martin
- Binder Alexander
- Eber Ernst
- Gallistl Siegfried
- Haidl Harald
- Hauer Almuthe
- Kohlfürst Daniela
- Kohlmaier Benno
- Leitner Manuel
- Pölz Lena
- Rajic Glorija
- Rusu Alexandra
- Sagmeister Manfred Gerald
- Schweintzger Nina
- Stoiser Bianca
- Till Holger
- Zenz Werner
- Zurl Christoph Johann
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- 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 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Humans - administration & dosage
- COVID-19 - genetics, complications, immunology, virology
- Child - administration & dosage
- Systemic Inflammatory Response Syndrome - genetics
- Male - administration & dosage
- Female - administration & dosage
- Butyrophilins - genetics, metabolism
- SARS-CoV-2 - administration & dosage
- Child, Preschool - administration & dosage
- Heterozygote - administration & dosage
- Adolescent - administration & dosage
- Genetic Predisposition to Disease - administration & dosage
- Infant - administration & dosage