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Items: 1 to 20 of 77

1.
RAG1 co‐expression signature identifies ETV6‐RUNX1‐like B‐cell precursor acute lymphoblastic leukemia in children
Dongfeng Chen, Alessandro Camponeschi, Jessica Nordlund, Yanara Marincevic‐Zuniga, Jonas Abrahamsson, Gudmar Lönnerholm, Linda Fogelstrand, Inga‐Lill Mårtensson
Cancer Med. 2021 Jun; 10(12): 3997–4003. Published online 2021 May 13. doi: 10.1002/cam4.3928
PMCID:
PMC8209579
AbstractArticlePDF–1.1M
2.
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes
Hanna IJspeert, Gertjan J. Driessen, Michael J. Moorhouse, Nico G. Hartwig, Beata Wolska-Kusnierz, Krzysztof Kalwak, Anna Pituch-Noworolska, Irina Kondratenko, Joris M. van Montfrans, Ester Mejstrikova, Arjan C. Lankester, Anton W. Langerak, Dik C. van Gent, Andrew P. Stubbs, Jacques J.M. van Dongen, Mirjam van der Burg
J Allergy Clin Immunol. 2014 Apr; 133(4): 1124–1133.e1. Published online 2014 Jan 11. doi: 10.1016/j.jaci.2013.11.028
PMCID:
PMC7112318
AbstractArticlePDF–1.8M
3.
Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations
Anna Szaflarska, Magdalena Rutkowska-Zapała, Monika Kotula, Anna Gruca, Agnieszka Grabowska, Marzena Lenart, Marta Surman, Elżbieta Trzyna, Anna Mordel, Anna Pituch-Noworolska, Maciej Siedlar
Arch Immunol Ther Exp (Warsz) 2016; 64(Suppl 1): 177–183. Published online 2017 Jan 12. doi: 10.1007/s00005-016-0447-1
PMCID:
PMC5334423
AbstractArticlePDF–671K
4.
Illegitimate RAG‐mediated recombination events are involved in IKZF1 Δ3–6 deletion in BCR‐ABL1 lymphoblastic leukaemia
Y. Dong, F. Liu, C. Wu, S. Li, X. Zhao, P. Zhang, J. Jiao, X. Yu, Y. Ji, M. Zhang
Clin Exp Immunol. 2016 Sep; 185(3): 320–331. Published online 2016 Jul 28. doi: 10.1111/cei.12812
PMCID:
PMC4991516
AbstractArticlePDF–859K
5.
Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies
Patrick M. Brauer, Itai M. Pessach, Erik Clarke, Jared H. Rowe, Lisa Ott de Bruin, Yu Nee Lee, Carmen Dominguez-Brauer, Anne M. Comeau, Geneve Awong, Kerstin Felgentreff, Yuhang H. Zhang, Andrea Bredemeyer, Waleed Al-Herz, Likun Du, Francesca Ververs, Marion Kennedy, Silvia Giliani, Gordon Keller, Barry P. Sleckman, David G. Schatz, Frederic D. Bushman, Luigi D. Notarangelo, Juan Carlos Zúñiga-Pflücker
Blood. 2016 Aug 11; 128(6): 783–793. Prepublished online 2016 Jun 14. doi: 10.1182/blood-2015-10-676304
PMCID:
PMC4982452
AbstractArticle
6.
Compound Heterozygous Mutation of Rag1 Leading to Omenn Syndrome
Adam G. W. Matthews, Christine E. Briggs, Keiichi Yamanaka, Trudy N. Small, Jana L. Mooster, Francisco A. Bonilla, Marjorie A. Oettinger, Manish J. Butte
PLoS One. 2015; 10(4): e0121489. Published online 2015 Apr 7. doi: 10.1371/journal.pone.0121489
PMCID:
PMC4388548
AbstractArticlePDF–1.5M
7.
A Hypomorphic RAG1 Mutation Resulting in a Phenotype Resembling Common Variable Immunodeficiency
Hassan Abolhassani, Ning Wang, Asghar Aghamohammadi, Nima Rezaei, Yu Nee Lee, Francesco Frugoni, Luigi D. Notrangelo, Qiang Pan-Hammarström, Lennart Hammarström
J Allergy Clin Immunol. Author manuscript; available in PMC 2015 Dec 1.
Published in final edited form as: J Allergy Clin Immunol. 2014 Dec; 134(6): 1375–1380. Published online 2014 Jul 2. doi: 10.1016/j.jaci.2014.04.042
PMCID:
PMC4261008
AbstractArticlePDF–857K
8.
Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency
A Lev, A J Simon, J Ben-Ari, D Takagi, T Stauber, L Trakhtenbrot, E Rosenthal, G Rechavi, N Amariglio, R Somech
Clin Exp Immunol. 2014 Jun; 176(3): 380–386. Published online 2014 Apr 24. doi: 10.1111/cei.12273
PMCID:
PMC4008982
AbstractArticlePDF–499K
9.
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency
Yu Nee Lee, Francesco Frugoni, Kerry Dobbs, Jolan E. Walter, Silvia Giliani, Andrew R. Gennery, Waleed Al-Herz, Elie Haddad, Francoise LeDeist, Jack H. Bleesing, Lauren A. Henderson, Sung-Yun Pai, Robert P. Nelson, Dalia H. El-Ghoneimy, Reem A. El-Feky, Shereen M. Reda, Elham Hossny, Pere Soler-Palacin, Ramsay L. Fuleihan, Niraj C. Patel, Michel J. Massaad, Raif S. Geha, Jennifer M. Puck, Paolo Palma, Caterina Cancrini, Karin Chen, Mauno Vihinen, Frederick W. Alt, Luigi D. Notarangelo
J Allergy Clin Immunol. Author manuscript; available in PMC 2015 Apr 1.
Published in final edited form as: J Allergy Clin Immunol. 2014 Apr; 133(4): 1099–1108.e12. Published online 2013 Nov 28. doi: 10.1016/j.jaci.2013.10.007
PMCID:
PMC4005599
AbstractArticlePDF–1.8M
10.
Expanding the spectrum of recombination-activating gene 1 deficiency: A family with early-onset autoimmunity
Lauren A. Henderson, Francesco Frugoni, Gregory Hopkins, Helen de Boer, Sung-Yun Pai, Yu Nee Lee, Jolan E. Walter, Melissa M. Hazen, Luigi D. Notarangelo
J Allergy Clin Immunol. Author manuscript; available in PMC 2014 Oct 1.
Published in final edited form as: J Allergy Clin Immunol. 2013 Oct; 132(4): 10.1016/j.jaci.2013.06.032. Published online 2013 Jul 24. doi: 10.1016/j.jaci.2013.06.032
PMCID:
PMC3874115
ArticlePDF–465K
11.
Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease
Andreas Reiff, Alexander G. Bassuk, Joseph A. Church, Elizabeth Campbell, Xinyu Bing, Polly J. Ferguson
J Clin Immunol. 2013; 33(8): 1289–1292. Published online 2013 Oct 12. doi: 10.1007/s10875-013-9953-7
PMCID:
PMC3873094
AbstractArticlePDF–184K
12.
A novel missense RAG-1 mutation results in T−B−NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories
Zheng Xiao, Steven M Yannone, Elizabeth Dunn, Morton J Cowan
Eur J Hum Genet. 2009 Feb; 17(2): 205–212. Published online 2008 Aug 13. doi: 10.1038/ejhg.2008.150
PMCID:
PMC2986061
AbstractArticlePDF–234K
13.
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations
Ponpan Matangkasombut, Muriel Pichavant, Doris E. Saez, Silvia Giliani, Evelina Mazzolari, Andrea Finocchi, Anna Villa, Cristina Sobacchi, Patricia Cortes, Dale T. Umetsu, Luigi D. Notarangelo
Blood. 2008 Jan 1; 111(1): 271–274. Prepublished online 2007 Sep 21. doi: 10.1182/blood-2007-06-096487
PMCID:
PMC2200812
AbstractArticle
14.
Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders
T Wada, K Takei, M Kudo, S Shimura, Y Kasahara, S Koizumi, K Kawa-Ha, Y Ishida, S Imashuku, H Seki, A Yachie
Clin Exp Immunol. 2000 Jan; 119(1): 148–155. doi: 10.1046/j.1365-2249.2000.01101.x
PMCID:
PMC1905546
AbstractArticlePDF–333K
15.
Identification and Characterization of a Gain-of-Function RAG-1 Mutant
Aleksei N. Kriatchko, Dirk K. Anderson, Patrick C. Swanson
Mol Cell Biol. 2006 Jun; 26(12): 4712–4728. doi: 10.1128/MCB.02487-05
PMCID:
PMC1489120
AbstractArticlePDF–803K
16.
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection
Jean-Pierre de Villartay, Annick Lim, Hamoud Al-Mousa, Sophie Dupont, Julie Déchanet-Merville, Edith Coumau-Gatbois, Marie-Lise Gougeon, Arnaud Lemainque, Céline Eidenschenk, Emmanuelle Jouanguy, Laurent Abel, Jean-Laurent Casanova, Alain Fischer, Françoise Le Deist
J Clin Invest. 2005 Nov 1; 115(11): 3291–3299. doi: 10.1172/JCI25178
PMCID:
PMC1265866
AbstractArticlePDF–816K
17.
N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains
Sandro Santagata, Carlos A. Gomez, Cristina Sobacchi, Fabio Bozzi, Mario Abinun, Srdjan Pasic, Patricia Cortes, Paolo Vezzoni, Anna Villa
Proc Natl Acad Sci U S A. 2000 Dec 19; 97(26): 14572–14577. doi: 10.1073/pnas.97.26.14572
PMCID:
PMC18960
AbstractArticlePDF–349K
18.
Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre
Betul Karaatmaca, Deniz Cagdas, Saliha Esenboga, Baran Erman, Cagman Tan, Tuba Turul Ozgur, Kaan Boztug, Mirjam van der Burg, Ozden Sanal, Ilhan Tezcan
Clin Exp Immunol. 2024 Feb; 215(2): 160–176. Published online 2024 Feb 3. doi: 10.1093/cei/uxad110
PMCID:
PMC10847812
AbstractArticlePDF–873K
19.
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT
C. Schuetz, J. Gerke, M. Ege, J. Walter, M. Kusters, A. Worth, J. A. Kanakry, D. Dimitrova, B. Wolska-Kuśnierz, K. Chen, E. Unal, M. Karakukcu, O. Pashchenko, J. Leiding, T. Kawai, P. J. Amrolia, D. Berghuis, J. Buechner, D. Buchbinder, M. J. Cowan, A. R. Gennery, T. Güngör, J. Heimall, M. Miano, I. Meyts, E. C. Morris, J. Rivière, S. O. Sharapova, P. J. Shaw, M. Slatter, M. Honig, P. Veys, A. Fischer, M. Cavazzana, D. Moshous, A. Schulz, M. H. Albert, J. M. Puck, A. C. Lankester, L. D. Notarangelo, B. Neven, Inborn Errors Working Party (IEWP) of the European Society for Immunodeficiencies (ESID) and European Society for Blood and Marrow Transplantation (EBMT) and the Primary Immune Deficiency Treatment Consortium (PIDTC)
Blood. 2023 Feb 16; 141(7): 713–724. Published online 2022 Oct 27. doi: 10.1182/blood.2022017667
PMCID:
PMC10082356
AbstractArticle
20.
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells
Krisztian Csomos, Boglarka Ujhazi, Peter Blazso, Jose L. Herrera, Christopher M. Tipton, Tomoki Kawai, Sumai Gordon, Maryssa Ellison, Kevin Wu, Matthew Stowell, Lauren Haynes, Rachel Cruz, Bence Zakota, Johnny Nguyen, Michelle Altrich, Christoph B. Geier, Svetlana Sharapova, Joseph F. Dasso, Jennifer W. Leiding, Grace Smith, Waleed Al-Herz, Mayra de Barros Dorna, Olajumoke Fadugba, Eva Fronkova, Veronika Kanderova, Michael Svaton, Sarah E. Henrickson, Joseph D. Hernandez, Taco Kuijpers, Snezhina Mihailova Kandilarova, Elizaveta Naumova, Tomas Milota, Anna Sediva, Despina Moshous, Benedicte Neven, Tara Saco, Ravishankar Sargur, Sinisa Savic, John Sleasman, Gauri Sunkersett, Brant R. Ward, Masanobu Komatsu, Stefania Pittaluga, Attila Kumanovics, Manish J. Butte, Michael P. Cancro, Shiv Pillai, Eric Meffre, Luigi D. Notarangelo, Jolan E. Walter
Nat Immunol. 2022; 23(8): 1256–1272. Published online 2022 Jul 28. doi: 10.1038/s41590-022-01271-6
PMCID:
PMC9355881
AbstractArticlePDF–17M

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