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

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Abstract

Competing 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 Ph...

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Dbaibo, 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.

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Citation

Bosticardo 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

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