215 related articles for article (PubMed ID: 34622798)
1. RAG1 splicing mutation causes enhanced B cell differentiation and autoantibody production.
Min Q; Meng X; Zhou Q; Wang Y; Li Y; Lai N; Xiong E; Wang W; Yasuda S; Yu M; Zhang H; Sun J; Wang X; Wang JY
JCI Insight; 2021 Oct; 6(19):. PubMed ID: 34622798
[TBL] [Abstract][Full Text] [Related]
2. DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.
Al-Herz W; Massaad MJ; Chou J; Notarangelo LD; Geha RS
Clin Immunol; 2018 Feb; 187():68-75. PubMed ID: 29051008
[TBL] [Abstract][Full Text] [Related]
3. PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
Mathieu AL; Verronese E; Rice GI; Fouyssac F; Bertrand Y; Picard C; Chansel M; Walter JE; Notarangelo LD; Butte MJ; Nadeau KC; Csomos K; Chen DJ; Chen K; Delgado A; Rigal C; Bardin C; Schuetz C; Moshous D; Reumaux H; Plenat F; Phan A; Zabot MT; Balme B; Viel S; Bienvenu J; Cochat P; van der Burg M; Caux C; Kemp EH; Rouvet I; Malcus C; Méritet JF; Lim A; Crow YJ; Fabien N; Ménétrier-Caux C; De Villartay JP; Walzer T; Belot A
J Allergy Clin Immunol; 2015 Jun; 135(6):1578-88.e5. PubMed ID: 25842288
[TBL] [Abstract][Full Text] [Related]
4. N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements.
Noordzij JG; Verkaik NS; Hartwig NG; de Groot R; van Gent DC; van Dongen JJ
Blood; 2000 Jul; 96(1):203-9. PubMed ID: 10891452
[TBL] [Abstract][Full Text] [Related]
5. Human RAG mutations: biochemistry and clinical implications.
Notarangelo LD; Kim MS; Walter JE; Lee YN
Nat Rev Immunol; 2016 Apr; 16(4):234-46. PubMed ID: 26996199
[TBL] [Abstract][Full Text] [Related]
6. Mouse IgM Fc receptor, FCMR, promotes B cell development and modulates antigen-driven immune responses.
Choi SC; Wang H; Tian L; Murakami Y; Shin DM; Borrego F; Morse HC; Coligan JE
J Immunol; 2013 Feb; 190(3):987-96. PubMed ID: 23267023
[TBL] [Abstract][Full Text] [Related]
7. Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation.
McCusker C; Hotte S; Le Deist F; Hirschfeld AF; Mitchell D; Nguyen VH; Gagnon R; Mazer B; Turvey SE; Jabado N
Clin Immunol; 2009 Jun; 131(3):447-55. PubMed ID: 19246248
[TBL] [Abstract][Full Text] [Related]
8. Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.
Geier CB; Piller A; Linder A; Sauerwein KM; Eibl MM; Wolf HM
PLoS One; 2015; 10(7):e0133220. PubMed ID: 26186701
[TBL] [Abstract][Full Text] [Related]
9. Autoantibodies from long-lived 'memory' plasma cells of NZB/W mice drive immune complex nephritis.
Cheng Q; Mumtaz IM; Khodadadi L; Radbruch A; Hoyer BF; Hiepe F
Ann Rheum Dis; 2013 Dec; 72(12):2011-7. PubMed ID: 24114925
[TBL] [Abstract][Full Text] [Related]
10. Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.
Walter JE; Rucci F; Patrizi L; Recher M; Regenass S; Paganini T; Keszei M; Pessach I; Lang PA; Poliani PL; Giliani S; Al-Herz W; Cowan MJ; Puck JM; Bleesing J; Niehues T; Schuetz C; Malech H; DeRavin SS; Facchetti F; Gennery AR; Andersson E; Kamani NR; Sekiguchi J; Alenezi HM; Chinen J; Dbaibo G; ElGhazali G; Fontana A; Pasic S; Detre C; Terhorst C; Alt FW; Notarangelo LD
J Exp Med; 2010 Jul; 207(7):1541-54. PubMed ID: 20547827
[TBL] [Abstract][Full Text] [Related]
11. A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN; Frugoni F; Dobbs K; Walter JE; Giliani S; Gennery AR; Al-Herz W; Haddad E; LeDeist F; Bleesing JH; Henderson LA; Pai SY; Nelson RP; El-Ghoneimy DH; El-Feky RA; Reda SM; Hossny E; Soler-Palacin P; Fuleihan RL; Patel NC; Massaad MJ; Geha RS; Puck JM; Palma P; Cancrini C; Chen K; Vihinen M; Alt FW; Notarangelo LD
J Allergy Clin Immunol; 2014 Apr; 133(4):1099-108. PubMed ID: 24290284
[TBL] [Abstract][Full Text] [Related]
12. Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying
Castiello MC; Di Verniere M; Draghici E; Fontana E; Penna S; Sereni L; Zecchillo A; Minuta D; Uva P; Zahn M; Gil-Farina I; Annoni A; Iaia S; Ott de Bruin LM; Notarangelo LD; Pike-Overzet K; Staal FJT; Villa A; Capo V
Front Immunol; 2023; 14():1268620. PubMed ID: 38022635
[TBL] [Abstract][Full Text] [Related]
13. Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.
IJspeert H; Driessen GJ; Moorhouse MJ; Hartwig NG; Wolska-Kusnierz B; Kalwak K; Pituch-Noworolska A; Kondratenko I; van Montfrans JM; Mejstrikova E; Lankester AC; Langerak AW; van Gent DC; Stubbs AP; van Dongen JJ; van der Burg M
J Allergy Clin Immunol; 2014 Apr; 133(4):1124-33. PubMed ID: 24418478
[TBL] [Abstract][Full Text] [Related]
14. Highly variable clinical phenotypes of hypomorphic RAG1 mutations.
Avila EM; Uzel G; Hsu A; Milner JD; Turner ML; Pittaluga S; Freeman AF; Holland SM
Pediatrics; 2010 Nov; 126(5):e1248-52. PubMed ID: 20956421
[TBL] [Abstract][Full Text] [Related]
15. Hypomorphic
Ott de Bruin LM; Bosticardo M; Barbieri A; Lin SG; Rowe JH; Poliani PL; Ching K; Eriksson D; Landegren N; Kämpe O; Manis JP; Notarangelo LD
Blood; 2018 Jul; 132(3):281-292. PubMed ID: 29743177
[TBL] [Abstract][Full Text] [Related]
16. Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy.
Schröder C; Baerlecken NT; Pannicke U; Dörk T; Witte T; Jacobs R; Stoll M; Schwarz K; Grimbacher B; Schmidt RE; Atschekzei F
Clin Immunol; 2017 Jun; 179():1-7. PubMed ID: 28216420
[TBL] [Abstract][Full Text] [Related]
17. Noncore RAG1 regions promote Vβ rearrangements and αβ T cell development by overcoming inherent inefficiency of Vβ recombination signal sequences.
Horowitz JE; Bassing CH
J Immunol; 2014 Feb; 192(4):1609-19. PubMed ID: 24415779
[TBL] [Abstract][Full Text] [Related]
18. IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens.
Maglione PJ; Simchoni N; Black S; Radigan L; Overbey JR; Bagiella E; Bussel JB; Bossuyt X; Casanova JL; Meyts I; Cerutti A; Picard C; Cunningham-Rundles C
Blood; 2014 Dec; 124(24):3561-71. PubMed ID: 25320238
[TBL] [Abstract][Full Text] [Related]
19. B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.
Salzer E; Santos-Valente E; Klaver S; Ban SA; Emminger W; Prengemann NK; Garncarz W; Müllauer L; Kain R; Boztug H; Heitger A; Arbeiter K; Eitelberger F; Seidel MG; Holter W; Pollak A; Pickl WF; Förster-Waldl E; Boztug K
Blood; 2013 Apr; 121(16):3112-6. PubMed ID: 23319571
[TBL] [Abstract][Full Text] [Related]
20. Class switch recombination in B lymphopoiesis: a potential pathway for B cell autoimmunity.
Diamant E; Melamed D
Autoimmun Rev; 2004 Aug; 3(6):464-9. PubMed ID: 15351312
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]