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1999 1
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87 results

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Page 1
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Materna M, Delmonte OM, Bosticardo M, Momenilandi M, Conrey PE, Charmeteau-De Muylder B, Bravetti C, Bellworthy R, Cederholm A, Staels F, Ganoza CA, Darko S, Sayed S, Le Floc'h C, Ogishi M, Rinchai D, Guenoun A, Bolze A, Khan T, Gervais A, Krüger R, Völler M, Palterer B, Sadeghi-Shabestari M, Langlois de Septenville A, Schramm CA, Shah S, Tello-Cajiao JJ, Pala F, Amini K, Campos JS, Lima NS, Eriksson D, Lévy R, Seeleuthner Y, Jyonouchi S, Ata M, Al Ali F, Stittrich A, Deswarte C, Pereira A, Mégret J, Le Voyer T, Bastard P, Berteloot L, Dussiot M, Vladikine N, Cardenas PP, Jouanguy E, Alqahtani M, Hasan A, Thanaraj TA, Rosain J, Al Qureshah F, Sabato V, Alyanakian MA, Leruez-Ville M, Rozenberg F, Haddad E, Regueiro JR, Toribio ML, Kelsen JR, Salehi M, Nasiri S, Torabizadeh M, Rokni-Zadeh H, Changi-Ashtiani M, Vatandoost N, Moravej H, Akrami SM, Mazloomrezaei M, Cobat A, Meyts I, Toyofuku E, Nishimura M, Moriya K, Mizukami T, Imai K, Abel L, Malissen B, Al-Mulla F, Alkuraya FS, Parvaneh N, von Bernuth H, Beetz C, Davi F, Douek DC, Cheynier R, Langlais D, Landegren N, Marr N, Morio T, Shahrooei M, Schrijvers R, Henrickson SE, Luche H, Notarangelo LD, Casanova JL, Béziat V. Materna M, et al. Among authors: bosticardo m. Science. 2024 Mar;383(6686):eadh4059. doi: 10.1126/science.adh4059. Epub 2024 Mar 1. Science. 2024. PMID: 38422122 Free PMC article.
A spatial human thymus cell atlas mapped to a continuous tissue axis.
Yayon N, Kedlian VR, Boehme L, Suo C, Wachter B, Beuschel RT, Amsalem O, Polanski K, Koplev S, Tuck E, Dann E, Van Hulle J, Perera S, Putteman T, Predeus AV, Dabrowska M, Richardson L, Tudor C, Kreins AY, Engelbert J, Stephenson E, Kleshchevnikov V, De Rita F, Crossland D, Bosticardo M, Pala F, Prigmore E, Chipampe NJ, Prete M, Fei L, To K, Barker RA, He X, Van Nieuwerburgh F, Bayraktar O, Patel M, Davies GE, Haniffa MA, Uhlmann V, Notarangelo LD, Germain RN, Radtke AJ, Marioni JC, Taghon T, Teichmann SA. Yayon N, et al. Among authors: bosticardo m. bioRxiv [Preprint]. 2023 Oct 27:2023.10.25.562925. doi: 10.1101/2023.10.25.562925. bioRxiv. 2023. Update in: Nature. 2024 Nov;635(8039):708-718. doi: 10.1038/s41586-024-07944-6. PMID: 37986877 Free PMC article. Updated. Preprint.
An Integrated Epigenomic and Transcriptomic Map of Mouse and Human αβ T Cell Development.
Chopp LB, Gopalan V, Ciucci T, Ruchinskas A, Rae Z, Lagarde M, Gao Y, Li C, Bosticardo M, Pala F, Livak F, Kelly MC, Hannenhalli S, Bosselut R. Chopp LB, et al. Among authors: bosticardo m. Immunity. 2020 Dec 15;53(6):1182-1201.e8. doi: 10.1016/j.immuni.2020.10.024. Epub 2020 Nov 25. Immunity. 2020. PMID: 33242395 Free PMC article.
Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency.
Castiello MC, Brandas C, Ferrari S, Porcellini S, Sacchetti N, Canarutto D, Draghici E, Merelli I, Barcella M, Pelosi G, Vavassori V, Varesi A, Jacob A, Scala S, Basso Ricci L, Paulis M, Strina D, Di Verniere M, Sergi Sergi L, Serafini M, Holland SM, Bergerson JRE, De Ravin SS, Malech HL, Pala F, Bosticardo M, Brombin C, Cugnata F, Calzoni E, Crooks GM, Notarangelo LD, Genovese P, Naldini L, Villa A. Castiello MC, et al. Among authors: bosticardo m. Sci Transl Med. 2024 Feb 7;16(733):eadh8162. doi: 10.1126/scitranslmed.adh8162. Epub 2024 Feb 7. Sci Transl Med. 2024. PMID: 38324638 Free PMC article.
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer T, Parent AV, Liu X, Cederholm A, Gervais A, Rosain J, Nguyen T, Perez Lorenzo M, Rackaityte E, Rinchai D, Zhang P, Bizien L, Hancioglu G, Ghillani-Dalbin P, Charuel JL, Philippot Q, Gueye MS, Maglorius Renkilaraj MRL, Ogishi M, Soudée C, Migaud M, Rozenberg F, Momenilandi M, Riller Q, Imberti L, Delmonte OM, Müller G, Keller B, Orrego J, Franco Gallego WA, Rubin T, Emiroglu M, Parvaneh N, Eriksson D, Aranda-Guillen M, Berrios DI, Vong L, Katelaris CH, Mustillo P, Raedler J, Bohlen J, Bengi Celik J, Astudillo C, Winter S; NF-κB Consortium; COVID Human Genetic Effort; McLean C, Guffroy A, DeRisi JL, Yu D, Miller C, Feng Y, Guichard A, Béziat V, Bustamante J, Pan-Hammarström Q, Zhang Y, Rosen LB, Holland SM, Bosticardo M, Kenney H, Castagnoli R, Slade CA, Boztuğ K, Mahlaoui N, Latour S, Abraham RS, Lougaris V, Hauck F, Sediva A, Atschekzei F, Sogkas G, Poli MC, Slatter MA, Palterer B, Keller MD, Pinzon-Charry A, Sullivan A, Droney L, Suan D, Wong M, Kane A, Hu H, Ma C, Grombiříková H, Ciznar P, Dalal I, Aladjidi N, Hie M, Lazaro E, Franco J, Keles S, Malphettes M, Pasquet M, Maccari ME, Meinhardt A, Ikinciogullari A, Shahrooei M, Celmeli F, Frosk P, Goodnow CC, Gray … See abstract for full author list ➔ Le Voyer T, et al. Among authors: bosticardo m. Nature. 2023 Nov;623(7988):803-813. doi: 10.1038/s41586-023-06717-x. Epub 2023 Nov 8. Nature. 2023. PMID: 37938781 Free PMC article.
A spatial human thymus cell atlas mapped to a continuous tissue axis.
Yayon N, Kedlian VR, Boehme L, Suo C, Wachter BT, Beuschel RT, Amsalem O, Polanski K, Koplev S, Tuck E, Dann E, Van Hulle J, Perera S, Putteman T, Predeus AV, Dabrowska M, Richardson L, Tudor C, Kreins AY, Engelbert J, Stephenson E, Kleshchevnikov V, De Rita F, Crossland D, Bosticardo M, Pala F, Prigmore E, Chipampe NJ, Prete M, Fei L, To K, Barker RA, He X, Van Nieuwerburgh F, Bayraktar OA, Patel M, Davies EG, Haniffa MA, Uhlmann V, Notarangelo LD, Germain RN, Radtke AJ, Marioni JC, Taghon T, Teichmann SA. Yayon N, et al. Among authors: bosticardo m. Nature. 2024 Nov;635(8039):708-718. doi: 10.1038/s41586-024-07944-6. Epub 2024 Nov 20. Nature. 2024. PMID: 39567784 Free PMC article.
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Yakici N, Kreins AY, Catak MC, Babayeva R, Erman B, Kenney H, Gungor HE, Cea PA, Kawai T, Bosticardo M, Delmonte OM, Adams S, Fan YT, Pala F, Turkyilmaz A, Howley E, Worth A, Kot H, Sefer AP, Kara A, Bulutoglu A, Bilgic-Eltan S, Altunbas MY, Bayram Catak F, Karakus IS, Karatay E, Tekeoglu SD, Eser M, Albayrak D, Citli S, Kiykim A, Karakoc-Aydiner E, Ozen A, Ghosh S, Gohlke H, Orhan F, Notarangelo LD, Davies EG, Baris S. Yakici N, et al. Among authors: bosticardo m. Clin Immunol. 2023 Oct;255:109757. doi: 10.1016/j.clim.2023.109757. Epub 2023 Sep 9. Clin Immunol. 2023. PMID: 37689091 Free PMC article.
Rediscovering the human thymus through cutting-edge technologies.
Pala F, Notarangelo LD, Bosticardo M. Pala F, et al. Among authors: bosticardo m. J Exp Med. 2024 Oct 7;221(10):e20230892. doi: 10.1084/jem.20230892. Epub 2024 Aug 21. J Exp Med. 2024. PMID: 39167072 Free PMC article. Review.
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.
Nunes-Santos CJ, Kuehn H, Boast B, Hwang S, Kuhns DB, Stoddard J, Niemela JE, Fink DL, Pittaluga S, Abu-Asab M, Davies JS, Barr VA, Kawai T, Delmonte OM, Bosticardo M, Garofalo M, Carneiro-Sampaio M, Somech R, Gharagozlou M, Parvaneh N, Samelson LE, Fleisher TA, Puel A, Notarangelo LD, Boisson B, Casanova JL, Derfalvi B, Rosenzweig SD. Nunes-Santos CJ, et al. Among authors: bosticardo m. Nat Commun. 2023 Jun 22;14(1):3708. doi: 10.1038/s41467-023-39272-0. Nat Commun. 2023. PMID: 37349293 Free PMC article.
87 results