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Page 1
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD. Walter JE, et al. Among authors: geha r. J Clin Invest. 2015 Nov 2;125(11):4135-48. doi: 10.1172/JCI80477. Epub 2015 Oct 12. J Clin Invest. 2015. PMID: 26457731 Free PMC article.
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD. Walter JE, et al. Among authors: geha r. J Clin Invest. 2016 Nov 1;126(11):4389. doi: 10.1172/JCI91162. Epub 2016 Nov 1. J Clin Invest. 2016. PMID: 27801680 Free PMC article. No abstract available.
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. Lee YN, et al. Among authors: geha rs. J Allergy Clin Immunol. 2014 Apr;133(4):1099-108. doi: 10.1016/j.jaci.2013.10.007. Epub 2013 Nov 28. J Allergy Clin Immunol. 2014. PMID: 24290284 Free PMC article.
Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.
Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kuśnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE. Farmer JR, et al. Among authors: geha rs. J Allergy Clin Immunol Pract. 2019 Jul-Aug;7(6):1970-1985.e4. doi: 10.1016/j.jaip.2019.02.038. Epub 2019 Mar 12. J Allergy Clin Immunol Pract. 2019. PMID: 30877075 Free PMC article.
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.
Massaad MJ, Zhou J, Tsuchimoto D, Chou J, Jabara H, Janssen E, Glauzy S, Olson BG, Morbach H, Ohsumi TK, Schmitz K, Kyriacos M, Kane J, Torisu K, Nakabeppu Y, Notarangelo LD, Chouery E, Megarbane A, Kang PB, Al-Idrissi E, Aldhekri H, Meffre E, Mizui M, Tsokos GC, Manis JP, Al-Herz W, Wallace SS, Geha RS. Massaad MJ, et al. J Clin Invest. 2016 Nov 1;126(11):4219-4236. doi: 10.1172/JCI85647. Epub 2016 Oct 17. J Clin Invest. 2016. PMID: 27760045 Free PMC article.
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Crestani E, Volpi S, Candotti F, Giliani S, Notarangelo LD, Chu J, Aldave Becerra JC, Buchbinder D, Chou J, Geha RS, Kanariou M, King A, Mazza C, Moratto D, Sokolic R, Garabedian E, Porta F, Putti MC, Wakim RH, Tsitsikov E, Pai SY, Notarangelo LD. Crestani E, et al. Among authors: geha rs. J Allergy Clin Immunol. 2015 Nov;136(5):1401-4.e1-3. doi: 10.1016/j.jaci.2015.08.010. Epub 2015 Sep 26. J Allergy Clin Immunol. 2015. PMID: 26409660 Free PMC article.
B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice.
Recher M, Burns SO, de la Fuente MA, Volpi S, Dahlberg C, Walter JE, Moffitt K, Mathew D, Honke N, Lang PA, Patrizi L, Falet H, Keszei M, Mizui M, Csizmadia E, Candotti F, Nadeau K, Bouma G, Delmonte OM, Frugoni F, Fomin AB, Buchbinder D, Lundequist EM, Massaad MJ, Tsokos GC, Hartwig J, Manis J, Terhorst C, Geha RS, Snapper S, Lang KS, Malley R, Westerberg L, Thrasher AJ, Notarangelo LD. Recher M, et al. Among authors: geha rs. Blood. 2012 Mar 22;119(12):2819-28. doi: 10.1182/blood-2011-09-379412. Epub 2012 Feb 1. Blood. 2012. PMID: 22302739 Free PMC article.
699 results