BibTex format
@article{Bellos:2024:10.1084/jem.20240699,
author = {Bellos, E and Santillo, D and Vantourout, P and Jackson, HR and Duret, A and Hearn, H and Seeleuthner, Y and Talouarn, E and Hodeib, S and Patel, H and Powell, O and Yeoh, S and Mustafa, S and Habgood-Coote, D and Nichols, S and Estramiana, Elorrieta L and DSouza, G and Wright, VJ and Estrada-Rivadeneyra, D and Tremoulet, AH and Dummer, KB and Netea, SA and Condino-Neto, A and Lau, YL and Núñez, Cuadros E and Toubiana, J and Holanda, Pena M and Rieux-Laucat, F and Luyt, C-E and Haerynck, F and Mège, JL and Chakravorty, S and Haddad, E and Morin, M-P and Metin, Akcan Ö and Keles, S and Emiroglu, M and Alkan, G and Tüter, Öz SK and Elmas, Bozdemir S and Morelle, G and Volokha, A and Kendir-Demirkol, Y and Sözeri, B and Coskuner, T and Yahsi, A and Gulhan, B and Kanik-Yuksek, S and Bayhan, GI and Ozkaya-Parlakay, A and Yesilbas, O and Hatipoglu, N and Ozcelik, T and Belot, A and Chopin, E and Barlogis, V and Sevketoglu, E and Menentoglu, E and Gayretli, Aydin ZG and Bloomfield, M and AlKh},
doi = {10.1084/jem.20240699},
journal = {Journal of Experimental Medicine},
title = {Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome inchildren (MIS-C)},
url = {http://dx.doi.org/10.1084/jem.20240699},
volume = {221},
year = {2024}
}
RIS format (EndNote, RefMan)
TY - JOUR
AB - 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.
AU - Bellos,E
AU - Santillo,D
AU - Vantourout,P
AU - Jackson,HR
AU - Duret,A
AU - Hearn,H
AU - Seeleuthner,Y
AU - Talouarn,E
AU - Hodeib,S
AU - Patel,H
AU - Powell,O
AU - Yeoh,S
AU - Mustafa,S
AU - Habgood-Coote,D
AU - Nichols,S
AU - Estramiana,Elorrieta L
AU - DSouza,G
AU - Wright,VJ
AU - Estrada-Rivadeneyra,D
AU - Tremoulet,AH
AU - Dummer,KB
AU - Netea,SA
AU - Condino-Neto,A
AU - Lau,YL
AU - Núñez,Cuadros E
AU - Toubiana,J
AU - Holanda,Pena M
AU - Rieux-Laucat,F
AU - Luyt,C-E
AU - Haerynck,F
AU - Mège,JL
AU - Chakravorty,S
AU - Haddad,E
AU - Morin,M-P
AU - Metin,Akcan Ö
AU - Keles,S
AU - Emiroglu,M
AU - Alkan,G
AU - Tüter,Öz SK
AU - Elmas,Bozdemir S
AU - Morelle,G
AU - Volokha,A
AU - Kendir-Demirkol,Y
AU - Sözeri,B
AU - Coskuner,T
AU - Yahsi,A
AU - Gulhan,B
AU - Kanik-Yuksek,S
AU - Bayhan,GI
AU - Ozkaya-Parlakay,A
AU - Yesilbas,O
AU - Hatipoglu,N
AU - Ozcelik,T
AU - Belot,A
AU - Chopin,E
AU - Barlogis,V
AU - Sevketoglu,E
AU - Menentoglu,E
AU - Gayretli,Aydin ZG
AU - Bloomfield,M
AU - AlKhater,SA
AU - Cyrus,C
AU - Stepanovskiy,Y
AU - Bondarenko,A
AU - Öz,FN
AU - Polat,M
AU - Fremuth,J
AU - Lebl,J
AU - Geraldo,A
AU - Jouanguy,E
AU - Aiuti,A
AU - Alsina,L
AU - Andreakos,E
AU - de,Andrés Martín A
AU - Biggs,CM
AU - Borghesi,A
AU - Bousfiha,AA
AU - Blazquez-Gamero,D
AU - Brodin,P
AU - Casari,G
AU - Condino-Neto,A
AU - Fellay,J
AU - Flores,C
AU - Gorochov,G
AU - Erdeniz,EH
AU - Hammarström,L
AU - Garcia,YJ
AU - Karbuz,A
AU - Klocperk,A
AU - Lapuente-Suanzes,P
AU - Lau,Y-L
AU - Leung,C
AU - Mansouri,D
AU - Mogensen,TH
AU - Ng,LFP
AU - Novelli,A
AU - Novelli,G
AU - Okamoto,K
AU - Okada,S
AU - Pan-Hammarström,Q
AU - Pesole,G
AU - Renia,L
AU - Rodriguez-Gallego,C
AU - Sediva,A
AU - Shahrooei,M
AU - Soler-Palacin,P
AU - Spaan,AN
AU - Tanir,G
AU - Tayoun,AA
AU - Temel,G
AU - Vinh,DC
AU - Cunnington,A
AU - Herberg,J
AU - Kaforou,M
AU - Wright,VJ
AU - Bellos,E
AU - Broderick,C
AU - Channon-Wells,S
AU - Cooray,S
AU - De,T
AU - D'Souza,G
AU - Elorrieta,LE
AU - Estrada-Rivadeneyra,D
AU - Galassini,R
AU - Habgood-Coote,D
AU - Hamilton,S
AU - Jackson,H
AU - Kavangh,J
AU - Keren,I
AU - Marjaneh,MM
AU - Menikou,S
AU - Nichols,S
AU - Nijman,R
AU - Pennisi,I
AU - Powell,O
AU - Reid,R
AU - Shah,P
AU - Vito,O
AU - Whittaker,E
AU - Wilson,C
AU - Womersley,R
AU - Abdulla,A
AU - Darnell,S
AU - Mustafa,S
AU - Georgiou,P
AU - Manzano,J-R
AU - Moser,N
AU - Carter,M
AU - Tibby,S
AU - Cohen,J
AU - Davis,F
AU - Kenny,J
AU - Wellman,P
AU - White,M
AU - Fish,M
AU - Jennings,A
AU - Shankar-Hari,M
AU - Fidler,K
AU - Agranoff,D
AU - Richmond,V
AU - Seal,M
AU - Faust,S
AU - Owen,D
AU - Ensom,R
AU - McKay,S
AU - Shaji,M
AU - Schranz,R
AU - Rughni,P
AU - Anpanthar,A
DO - 10.1084/jem.20240699
PY - 2024///
SN - 0022-1007
TI - Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome inchildren (MIS-C)
T2 - Journal of Experimental Medicine
UR - http://dx.doi.org/10.1084/jem.20240699
UR - https://rupress.org/jem/article/221/12/e920240699/277108/Heterozygous-BTNL8-variants-in-individuals-with
VL - 221
ER -