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Page 1
Case report: A novel JAK3 homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19.
Sbruzzi RC, Prado MJ, Fam B, Prolla HA, Hellwig A, Motta Rodrigues G, de-Paris F, Jobim M, Artigalás O, Seeleuthner Y, Casanova JL, Bustamante J, Vianna FSL. Sbruzzi RC, et al. Among authors: seeleuthner y. Front Immunol. 2024 Nov 13;15:1472957. doi: 10.3389/fimmu.2024.1472957. eCollection 2024. Front Immunol. 2024. PMID: 39611146 Free PMC article.
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
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; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS; 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, Sanc… See abstract for full author list ➔ Bellos E, et al. Among authors: seeleuthner y. J Exp Med. 2024 Dec 2;221(12):e20240699. doi: 10.1084/jem.20240699. Epub 2024 Nov 22. J Exp Med. 2024. PMID: 39576310 Free PMC article.
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.
Bohlen J, Bagarić I, Vatovec T, Ogishi M, Ahmed SF, Cederholm A, Buetow L, Sobrino S, Le Floc'h C, Arango-Franco CA, Seabra L, Michelet M, Barzaghi F, Leardini D, Saettini F, Vendemini F, Baccelli F, Catala A, Gambineri E, Veltroni M, Aguilar de la Red Y, Rice GI, Consonni F, Berteloot L, Largeaud L, Conti F, Roullion C, Masson C, Bessot B, Seeleuthner Y, Le Voyer T, Rinchai D, Rosain J, Neehus AL, Erazo-Borrás L, Li H, Janda Z, Cho EJ, Muratore E, Soudée C, Lainé C, Delabesse E, Goulvestre C, Ma CS, Puel A, Tangye SG, André I, Bole-Feysot C, Abel L, Erlacher M, Zhang SY, Béziat V, Lagresle-Peyrou C, Six E, Pasquet M, Alsina L, Aiuti A, Zhang P, Crow YJ, Landegren N, Masetti R, Huang DT, Casanova JL, Bustamante J. Bohlen J, et al. Among authors: seeleuthner y. J Clin Invest. 2024 Oct 15;134(20):e181604. doi: 10.1172/JCI181604. J Clin Invest. 2024. PMID: 39403923 Free PMC article.
IL-7-dependent and -independent lineages of IL-7R-dependent human T cells.
Arango-Franco CA, Ogishi M, Unger S, Delmonte OM, Orrego JC, Yatim A, Velasquez-Lopera MM, Zea-Vera AF, Bohlen J, Chbihi M, Fayand A, Sánchez JP, Rojas J, Seeleuthner Y, Le Voyer T, Philippot Q, Payne KJ, Gervais A, Erazo-Borrás LV, Correa-Londoño LA, Cederholm A, Gallón-Duque A, Goncalves P, Doisne JM, Horev L, Charmeteau-de Muylder B, Álvarez JÁ, Arboleda DM, Pérez-Zapata L, Vásquez-Echeverri E, Moncada-Vélez M, López JA, Caicedo Y, Palterer B, Patiño PJ, Montoya CJ, Chaldebas M, Zhang P, Nguyen T, Ma CS, Jeljeli M, Alzate JF, Cabarcas F, Khan T, Rinchai D, Prétet JL, Boisson B; Generalized Verrucosis Japanese Consortium; Marr N, Ibrahim R, Molho-Pessach V, Boisson-Dupuis S, Kiritsi D, Barata JT, Landegren N, Neven B, Abel L, Lisco A, Béziat V, Jouanguy E, Bustamante J, Di Santo JP, Tangye SG, Notarangelo LD, Cheynier R, Natsuga K, Arias AA, Franco JL, Warnatz K, Casanova JL, Puel A. Arango-Franco CA, et al. Among authors: seeleuthner y. J Clin Invest. 2024 Oct 1;134(19):e180251. doi: 10.1172/JCI180251. J Clin Invest. 2024. PMID: 39352394 Free PMC article.
Tuberculosis in otherwise healthy adults with inherited TNF deficiency.
Arias AA, Neehus AL, Ogishi M, Meynier V, Krebs A, Lazarov T, Lee AM, Arango-Franco CA, Yang R, Orrego J, Corcini Berndt M, Rojas J, Li H, Rinchai D, Erazo-Borrás L, Han JE, Pillay B, Ponsin K, Chaldebas M, Philippot Q, Bohlen J, Rosain J, Le Voyer T, Janotte T, Amarajeeva K, Soudée C, Brollo M, Wiegmann K, Marquant Q, Seeleuthner Y, Lee D, Lainé C, Kloos D, Bailey R, Bastard P, Keating N, Rapaport F, Khan T, Moncada-Vélez M, Carmona MC, Obando C, Alvarez J, Cataño JC, Martínez-Rosado LL, Sanchez JP, Tejada-Giraldo M, L'Honneur AS, Agudelo ML, Perez-Zapata LJ, Arboleda DM, Alzate JF, Cabarcas F, Zuluaga A, Pelham SJ, Ensser A, Schmidt M, Velásquez-Lopera MM, Jouanguy E, Puel A, Krönke M, Ghirardello S, Borghesi A, Pahari S, Boisson B, Pittaluga S, Ma CS, Emile JF, Notarangelo LD, Tangye SG, Marr N, Lachmann N, Salvator H, Schlesinger LS, Zhang P, Glickman MS, Nathan CF, Geissmann F, Abel L, Franco JL, Bustamante J, Casanova JL, Boisson-Dupuis S. Arias AA, et al. Among authors: seeleuthner y. Nature. 2024 Sep;633(8029):417-425. doi: 10.1038/s41586-024-07866-3. Epub 2024 Aug 28. Nature. 2024. PMID: 39198650 Free PMC article.
Human TMEFF1 is a restriction factor for herpes simplex virus in the brain.
Chan YH, Liu Z, Bastard P, Khobrekar N, Hutchison KM, Yamazaki Y, Fan Q, Matuozzo D, Harschnitz O, Kerrouche N, Nakajima K, Amin P, Yatim A, Rinchai D, Chen J, Zhang P, Ciceri G, Chen J, Dobbs K, Belkaya S, Lee D, Gervais A, Aydın K, Kartal A, Hasek ML, Zhao S, Reino EG, Lee YS, Seeleuthner Y, Chaldebas M, Bailey R, Vanhulle C, Lorenzo L, Boucherit S, Rozenberg F, Marr N, Mogensen TH, Aubart M, Cobat A, Dulac O, Emiroglu M, Paludan SR, Abel L, Notarangelo L, Longnecker R, Smith G, Studer L, Casanova JL, Zhang SY. Chan YH, et al. Among authors: seeleuthner y. Nature. 2024 Aug;632(8024):390-400. doi: 10.1038/s41586-024-07745-x. Epub 2024 Jul 24. Nature. 2024. PMID: 39048830 Free PMC article.
SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency.
Chan YH, Lundberg V, Le Pen J, Yuan J, Lee D, Pinci F, Volpi S, Nakajima K, Bondet V, Åkesson S, Khobrekar NV, Bodansky A, Du L, Melander T, Mariaggi AA, Seeleuthner Y, Saleh TS, Chakravarty D, Marits P, Dobbs K, Vonlanthen S, Hennings V, Thörn K, Rinchai D, Bizien L, Chaldebas M, Sobh A, Özçelik T, Keles S, AlKhater SA, Prando C, Meyts I; COVID Human Genetic Effort; Wilson MR, Rosain J, Jouanguy E, Aubart M, Abel L, Mogensen TH, Pan-Hammarström Q, Gao D, Duffy D, Cobat A, Berg S, Notarangelo LD, Harschnitz O, Rice CM, Studer L, Casanova JL, Ekwall O, Zhang SY. Chan YH, et al. Among authors: seeleuthner y. J Exp Med. 2024 Sep 2;221(9):e20231725. doi: 10.1084/jem.20231725. Epub 2024 Jul 18. J Exp Med. 2024. PMID: 39023559 Free PMC article.
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Neehus AL, Carey B, Landekic M, Panikulam P, Deutsch G, Ogishi M, Arango-Franco CA, Philippot Q, Modaresi M, Mohammadzadeh I, Berndt MC, Rinchai D, Le Voyer T, Rosain J, Momenilandi M, Martin-Fernandez M, Khan T, Bohlen J, Han JE, Deslys A, Bernard M, Gajardo-Carrasco T, Soudée C, Le Floc'h C, Migaud M, Seeleuthner Y, Jang MS, Nikolouli E, Seyedpour S, Begueret H, Emile JF, Le Guen P, Tavazzi G, Julia Colombo CN, Marzani FC, Angelini M, Trespidi F, Ghirardello S, Alipour N, Molitor A, Carapito R, Mazloomrezaei M, Rokni-Zadeh H, Changi-Ashtiani M, Brouzes C, Vargas P, Borghesi A, Lachmann N, Bahram S, Crestani B, Fayon M, Galode F, Pahari S, Schlesinger LS, Marr N, Bogunovic D, Boisson-Dupuis S, Béziat V, Abel L, Borie R, Young LR, Deterding R, Shahrooei M, Rezaei N, Parvaneh N, Craven D, Gros P, Malo D, Sepulveda FE, Nogee LM, Aladjidi N, Trapnell BC, Casanova JL, Bustamante J. Neehus AL, et al. Among authors: seeleuthner y. Cell. 2024 Jun 20;187(13):3460. doi: 10.1016/j.cell.2024.05.021. Epub 2024 May 21. Cell. 2024. PMID: 38776920 Free PMC article. No abstract available.
FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice.
Momenilandi M, Lévy R, Sobrino S, Li J, Lagresle-Peyrou C, Esmaeilzadeh H, Fayand A, Le Floc'h C, Guérin A, Della Mina E, Shearer D, Delmonte OM, Yatim A, Mulder K, Mancini M, Rinchai D, Denis A, Neehus AL, Balogh K, Brendle S, Rokni-Zadeh H, Changi-Ashtiani M, Seeleuthner Y, Deswarte C, Bessot B, Cremades C, Materna M, Cederholm A, Ogishi M, Philippot Q, Beganovic O, Ackermann M, Wuyts M, Khan T, Fouéré S, Herms F, Chanal J, Palterer B, Bruneau J, Molina TJ, Leclerc-Mercier S, Prétet JL, Youssefian L, Vahidnezhad H, Parvaneh N, Claeys KG, Schrijvers R, Luka M, Pérot P, Fourgeaud J, Nourrisson C, Poirier P, Jouanguy E, Boisson-Dupuis S, Bustamante J, Notarangelo LD, Christensen N, Landegren N, Abel L, Marr N, Six E, Langlais D, Waterboer T, Ginhoux F, Ma CS, Tangye SG, Meyts I, Lachmann N, Hu J, Shahrooei M, Bossuyt X, Casanova JL, Béziat V. Momenilandi M, et al. Among authors: seeleuthner y. Cell. 2024 May 23;187(11):2817-2837.e31. doi: 10.1016/j.cell.2024.04.009. Epub 2024 May 3. Cell. 2024. PMID: 38701783 Free PMC article.
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
Johnson MB, Ogishi M, Domingo-Vila C, De Franco E, Wakeling MN, Imane Z, Resnick B, Williams E, Galão RP, Caswell R, Russ-Silsby J, Seeleuthner Y, Rinchai D, Fagniez I, Benson B, Dufort MJ, Speake C, Smithmyer ME, Hudson M, Dobbs R; EXE-T1D consortium; Quandt Z, Hattersley AT, Zhang P, Boisson-Dupuis S, Anderson MS, Casanova JL, Tree TI, Oram RA. Johnson MB, et al. Among authors: seeleuthner y. J Exp Med. 2024 Jun 3;221(6):e20231704. doi: 10.1084/jem.20231704. Epub 2024 Apr 18. J Exp Med. 2024. PMID: 38634869 Free PMC article.
53 results