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Multiomics dissection of human RAG deficiency revealsdistinctive patterns of immune dysregulation but acommon inflammatory signature

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dc.contributor.authorBosticardo, Marita
dc.contributor.authorDobbs, Kerry
dc.contributor.authorDelmonte, Ottavia
dc.contributor.authorMartins, Andrew
dc.contributor.authorPala, Francesca
dc.contributor.authorKawai, Tomoki
dc.contributor.authorKenney, Heather
dc.contributor.authorMagro, Gloria
dc.contributor.authorRosen, Lindsey
dc.contributor.authorYamazaki, Yasuhiro
dc.contributor.authorYu, Hsin-Hui
dc.contributor.authorCalzoni, Enrica
dc.contributor.authorLee, Yu Nee
dc.contributor.authorLiu, Can
dc.contributor.authorStoddard, Jennifer
dc.contributor.authorNiemela, Julie
dc.contributor.authorFink, Danielle
dc.contributor.authorCastagnoli, Riccardo
dc.contributor.authorRamba, Meredith
dc.contributor.authorCheng, Aristine
dc.contributor.authorRiley, Deanna
dc.contributor.authorOikonomou, Vasileios
dc.contributor.authorShaw, Elana
dc.contributor.authorBelaid, Brahim
dc.contributor.authorKeles, Sevgi
dc.contributor.authorAl- Herz, Waleed
dc.contributor.authorCancrin, Caterina
dc.contributor.authorCifald, Cristina
dc.contributor.authorBaris, Safa
dc.contributor.authorSharapova, Svetlana
dc.contributor.authorSchuetz, Catharina
dc.contributor.authorGennery, Andrew
dc.contributor.authorFreeman, Alexandra
dc.contributor.authorSomech, Raz
dc.contributor.authorChoo, Sharon
dc.contributor.authorGiliani, Silvia
dc.contributor.authorGüngör, Tayfun
dc.contributor.authorDrozdov, Daniel
dc.contributor.authorMeyt, Isabelle
dc.contributor.authorMoshous, Despina
dc.contributor.authorNeven, Benedicte
dc.contributor.authorAbraham, Roshini
dc.contributor.authorEl- Marsafy, Aisha
dc.contributor.authorKanariou, Maria
dc.contributor.authorKing, Alejandra
dc.contributor.authorLicciardi, Francesco
dc.contributor.authorCruz, Mario
dc.contributor.authorPalma, Paolo
dc.contributor.authorPoli Harlowe, María Cecilia
dc.contributor.authorAdelo, Mehdi
dc.contributor.authorAlgeri, Mattia
dc.contributor.authorAlroqi, Fayhan
dc.contributor.authorBastard, Paul
dc.contributor.authorBergerson, Jenna
dc.contributor.authorBooth, Claire
dc.contributor.authorBrett, Ana
dc.contributor.authorBurns, Siobhan
dc.contributor.authorButt, Manish
dc.contributor.authorPadem, Nurcicek
dc.contributor.authorde la Morena, M. Teresa
dc.date.accessioned2026-08-11T19:35:09Z
dc.date.available2026-08-11T19:35:09Z
dc.date.issued2025
dc.descriptionDbaibo, Ghassan; de Ravin Suk See; Dimitrova, Dimana; Djidjik, Reda; Dorna, Mayra B.; Dutmerz, Cullen M.; Elfeky, Reem; Facchetti, Fabio; Fuleihan, Ramsay L.; Geha, Raif S.; Gonzalez-Granado Luis I.; Haljasmägi, Liis; Ale Hanadys; Hayward, Anthony; Hifanova, Anna M.; Ip, Winnie; Kaplan, Blanka; Kapoor, Neena; Karakoc-Aydiner, Elif; Kärner, Jaanika; Keller, Michael D.; Dávila Saldaña, Blachy J.; Kiykim, Ayça; Kuijpers, Taco W.; Kuznetsova, Elena E.; Latysheva, Elena A.; Leiding, Jennifer W.; Locatelli, Franco; Alva-Lozada ,Guisela; McCusker, Christine; Celmeli, Fatih; Morsheimer, Megan; Ozen ,Ahmet; Parvaneh, Nima; Pasic, Srdjan; Plebani, Alessandro; Preece, Kahn; Prockop, Susan; Sakovich, Inga S.; Starkova, Elena E.; Torgerson, Troy; Verbsky, James; Walter, Jolan E.; Ward, Brant; Wisner, Elizabeth L.; Draper, Deborah; Myint-Hpu, Katherine; Truong, Pooi M.; Lionakis, Michail S.; Similuk, Morgan B.; Walkiewicz, Magdalena A.; Klion, Amy; Holland, Steven M.; Oguz, Cihan; Bogunovic, Dusan; Kisand, Kai; Su, Helen C.; Tsang, John S.; Kuhns, Douglas; Villa, Anna; Rosenzweig, Sergio D.; Pittaluga, Stefania; Notarangelo, Luigi D.
dc.description.abstractCompeting interests: M.J.B. is a speaker for Grifols; consults for Pharming, Horizon/Amgen, and Grifols; receives sponsored research funding from the NIH, the Bill and Melinda Gates Foundation, and Pharming; and serves on the scientific advisory board for ADMA Biologics. H.C.S. has stock holdings in Amgen and Eli Lily. R.S.A. receives royalties from Elsevier for book publications, serves as deputy editor for the Journal of Immunology, is Committee Chair of Newborn Screening for SCID for the Clinical and Laboratory Standards Institute, and is a member of the Immunology Clinical Domain Working Group for ClinGen. B.J.D.S. is an ad hoc consultant for Sobi and a member of the Data Safety Monitoring Board for Orchard Therapeutics. I.M. is a senior Clinical Researcher at the FWO Flanders. R.L.F. has consulted for Takeda, Griffons, Horizon, and Pharming. B.W. serves as consultant for the Immunology Speakers Bureau, Takeda Pharmaceutocals. S. Prockop receives support for the conduct of clinical trials through Boston Children’s Hospital from AlloVir, Atara, and Jasper. She is an inventor of intellectual property related to development of third-party virus-specific T cells program with all rights assigned to Memorial Sloan Kettering Cancer Center; receives honoraria from Pierre Fabre, Regeneron; serves on the data safety monitoring board at Stanford University and New York Blood Center; and is consulting for Atara, Ensoma, Pierre Fabre, HEOR and VOR. J.S.T. serves on the scientific advisory board of CytoReason Inc. and Immunoscape Inc. and as the co–chief science officer (unpaid) of the Human Immunome Project (nonprofit). All other authors declare that they have no competing interests.
dc.description.versionVersión Publicada
dc.identifier.citationBosticardo M, Dobbs K, Delmonte OM, Martins AJ, Pala F, Kawai T, Kenney H, Magro G, Rosen LB, Yamazaki Y, Yu HH, Calzoni E, Lee YN, Liu C, Stoddard J, Niemela J, Fink D, Castagnoli R, Ramba M, Cheng A, Riley D, Oikonomou V, Shaw E, Belaid B, Keles S, Al-Herz W, Cancrini C, Cifaldi C, Baris S, Sharapova S, Schuetz C, Gennery AR, Freeman AF, Somech R, Choo S, Giliani SC, Güngör T, Drozdov D, Meyts I, Moshous D, Neven B, Abraham RS, El-Marsafy A, Kanariou M, King A, Licciardi F, Cruz-Muñoz ME, Palma P, Poli C, Adeli M, Algeri M, Alroqi FJ, Bastard P, Bergerson JRE, Booth C, Brett A, Burns SO, Butte MJ, Padem N, de la Morena M, Dbaibo G, de Ravin SS, Dimitrova D, Djidjik R, Dorna MB, Dutmer CM, Elfeky R, Facchetti F, Fuleihan RL, Geha RS, Gonzalez-Granado LI, Haljasmägi L, Ale H, Hayward A, Hifanova AM, Ip W, Kaplan B, Kapoor N, Karakoc-Aydiner E, Kärner J, Keller MD, Dávila Saldaña BJ, Kiykim A, Kuijpers TW, Kuznetsova EE, Latysheva EA, Leiding JW, Locatelli F, Alva-Lozada G, McCusker C, Celmeli F, Morsheimer M, Ozen A, Parvaneh N, Pasic S, Plebani A, Preece K, Prockop S, Sakovich IS, Starkova EE, Torgerson T, Verbsky J, Walter JE, Ward B, Wisner EL, Draper D, Myint-Hpu K, Truong PM, Lionakis MS, Similuk MB; Centralized Sequencing Program Group§§; Walkiewicz MA, Klion A, Holland SM, Oguz C, Bogunovic D, Kisand K, Su HC, Tsang JS, Kuhns D, Villa A, Rosenzweig SD, Pittaluga S, Notarangelo LD; Centralized Sequencing Program Group. Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature. Sci Immunol. 2025 Jan 10;10(103):eadq1697. doi: 10.1126/sciimmunol.adq1697
dc.identifier.doihttps://doi.org/10.1126/sciimmunol.adq1697
dc.identifier.urihttps://hdl.handle.net/11447/10995
dc.language.isoen
dc.subjectDNA-Binding Proteins / deficiency
dc.subjectDNA-Binding Proteins / immunology
dc.subjectHomeodomain Proteins / immunology
dc.subjectInflammation* / immunology
dc.titleMultiomics dissection of human RAG deficiency revealsdistinctive patterns of immune dysregulation but acommon inflammatory signature
dc.typeArticle
dcterms.sourceScience immunology
dspace.entity.typePublication
relation.isAuthorOfPublicationbf711dbf-cd6f-4a66-97fb-64c15f664de3
relation.isAuthorOfPublication.latestForDiscoverybf711dbf-cd6f-4a66-97fb-64c15f664de3

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