Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells.
Nature Immunology
Csomos, Krisztian K; Ujhazi, Boglarka B; Blazso, Peter P; Herrera, Jose L JL; Tipton, Christopher M CM; Kawai, Tomoki T; Gordon, Sumai S; Ellison, Maryssa M; Wu, Kevin K; Stowell, Matthew M; Haynes, Lauren L; Cruz, Rachel R; Zakota, Bence B; Nguyen, Johnny J; Altrich, Michelle M; Geier, Christoph B CB; Sharapova, Svetlana S; Dasso, Joseph F JF; Leiding, Jennifer W JW; Smith, Grace G; Al-Herz, Waleed W; de Barros Dorna, Mayra M; Fadugba, Olajumoke O; Fronkova, Eva E; Kanderova, Veronika V; Svaton, Michael M; Henrickson, Sarah E SE; Hernandez, Joseph D JD; Kuijpers, Taco T; Kandilarova, Snezhina Mihailova SM; Naumova, Elizaveta E; Milota, Tomas T; Sediva, Anna A; Moshous, Despina D; Neven, Benedicte B; Saco, Tara T; Sargur, Ravishankar R; Savic, Sinisa S; Sleasman, John J; Sunkersett, Gauri G; Ward, Brant R BR; Komatsu, Masanobu M; Pittaluga, Stefania S; Kumanovics, Attila A; Butte, Manish J MJ; Cancro, Michael P MP; Pillai, Shiv S; Meffre, Eric E; Notarangelo, Luigi D LD; Walter, Jolan E JE
Publication Date: 2022-08
Variant appearance in text: RAG2: 1352G>C; G451A; rs121918575
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Frontiers In Immunology
Sharapova, Svetlana O SO; Skomska-Pawliszak, Małgorzata M; Rodina, Yulia A YA; Wolska-Kuśnierz, Beata B; Dabrowska-Leonik, Nel N; Mikołuć, Bozena B; Pashchenko, Olga E OE; Pasic, Srdjan S; Freiberger, Tomáš T; Milota, Tomáš T; Formánková, Renata R; Szaflarska, Anna A; Siedlar, Maciej M; Avčin, Tadej T; Markelj, Gašper G; Ciznar, Peter P; Kalwak, Krzysztof K; Kołtan, Sylwia S; Jackowska, Teresa T; Drabko, Katarzyna K; Gagro, Alenka A; Pac, Małgorzata M; Naumova, Elissaveta E; Kandilarova, Snezhina S; Babol-Pokora, Katarzyna K; Varabyou, Dzmitry S DS; Barendregt, Barbara H BH; Raykina, Elena V EV; Varlamova, Tatiana V TV; Pavlova, Anna V AV; Grombirikova, Hana H; Debeljak, Maruša M; Mersiyanova, Irina V IV; Bondarenko, Anastasiia V AV; Chernyshova, Liudmyla I LI; Kostyuchenko, Larysa V LV; Guseva, Marina N MN; Rascon, Jelena J; Muleviciene, Audrone A; Preiksaitiene, Egle E; Geier, Christoph B CB; Leiss-Piller, Alexander A; Yamazaki, Yasuhiro Y; Kawai, Tomoki T; Walter, Jolan E JE; Kondratenko, Irina V IV; Šedivá, Anna A; van der Burg, Mirjam M; Kuzmenko, Natalia B NB; Notarangelo, Luigi D LD; Bernatowska, Ewa E; Aleinikova, Olga V OV
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11
Variant appearance in text: RAG2: 1352G>C; Gly451Ala
Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.
The Journal Of Allergy And Clinical Immunology. In Practice
Farmer, Jocelyn R JR; Foldvari, Zsofia Z; Ujhazi, Boglarka B; De Ravin, Suk See SS; Chen, Karin K; Bleesing, Jack J H JJH; Schuetz, Catharina C; Al-Herz, Waleed W; Abraham, Roshini S RS; Joshi, Avni Y AY; Costa-Carvalho, Beatriz T BT; Buchbinder, David D; Booth, Claire C; Reiff, Andreas A; Ferguson, Polly J PJ; Aghamohammadi, Asghar A; Abolhassani, Hassan H; Puck, Jennifer M JM; Adeli, Mehdi M; Cancrini, Caterina C; Palma, Paolo P; Bertaina, Alice A; Locatelli, Franco F; Di Matteo, Gigliola G; Geha, Raif S RS; Kanariou, Maria G MG; Lycopoulou, Lilia L; Tzanoudaki, Marianna M; Sleasman, John W JW; Parikh, Suhag S; Pinero, Gloria G; Fischer, Bernard M BM; Dbaibo, Ghassan G; Unal, Ekrem E; Patiroglu, Turkan T; Karakukcu, Musa M; Al-Saad, Khulood Khalifa KK; Dilley, Meredith A MA; Pai, Sung-Yun SY; Dutmer, Cullen M CM; Gelfand, Erwin W EW; Geier, Christoph B CB; Eibl, Martha M MM; Wolf, Hermann M HM; Henderson, Lauren A LA; Hazen, Melissa M MM; Bonfim, Carmem C; Wolska-Kuśnierz, Beata B; Butte, Manish J MJ; Hernandez, Joseph D JD; Nicholas, Sarah K SK; Stepensky, Polina P; Chandrakasan, Shanmuganathan S; Miano, Maurizio M; Westermann-Clark, Emma E; Goda, Vera V; Kriván, Gergely G; Holland, Steven M SM; Fadugba, Olajumoke O; Henrickson, Sarah E SE; Ozen, Ahmet A; Karakoc-Aydiner, Elif E; Baris, Safa S; Kiykim, Ayca A; Bredius, Robbert R; Hoeger, Birgit B; Boztug, Kaan K; Pashchenko, Olga O; Neven, Benedicte B; Moshous, Despina D; Villartay, Jean-Pierre de JP; Bousfiha, Ahmed Aziz AA; Hill, Harry R HR; Notarangelo, Luigi D LD; Walter, Jolan E JE
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: RAG2: G451A; rs121918575
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.
The Journal Of Allergy And Clinical Immunology
Tirosh, Irit I; Yamazaki, Yasuhiro Y; Frugoni, Francesco F; Ververs, Francesca A FA; Allenspach, Eric J EJ; Zhang, Yu Y; Burns, Siobhan S; Al-Herz, Waleed W; Noroski, Lenora L; Walter, Jolan E JE; Gennery, Andrew R AR; van der Burg, Mirjam M; Notarangelo, Luigi D LD; Lee, Yu Nee YN
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03
Variant appearance in text: RAG2: 1352G>C; G451A; rs121918575