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Page 1
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: schuetz c. 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.
An immunodeficiency disease with RAG mutations and granulomas.
Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, Schneider DT, Manfras B, Pannicke U, Willemze R, Knüchel R, Göbel U, Schulz A, Borkhardt A, Friedrich W, Schwarz K, Niehues T. Schuetz C, et al. N Engl J Med. 2008 May 8;358(19):2030-8. doi: 10.1056/NEJMoa073966. N Engl J Med. 2008. PMID: 18463379 Free article.
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. Walter JE, et al. Among authors: schuetz c. J Exp Med. 2010 Jul 5;207(7):1541-54. doi: 10.1084/jem.20091927. Epub 2010 Jun 14. J Exp Med. 2010. PMID: 20547827 Free PMC article.
Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?
Fernandes JF, Rocha V, Labopin M, Neven B, Moshous D, Gennery AR, Friedrich W, Porta F, Diaz de Heredia C, Wall D, Bertrand Y, Veys P, Slatter M, Schulz A, Chan KW, Grimley M, Ayas M, Gungor T, Ebell W, Bonfim C, Kalwak K, Taupin P, Blanche S, Gaspar HB, Landais P, Fischer A, Gluckman E, Cavazzana-Calvo M; Eurocord and Inborn Errors Working Party of European Group for Blood and Marrow Transplantation. Fernandes JF, et al. Blood. 2012 Mar 22;119(12):2949-55. doi: 10.1182/blood-2011-06-363572. Epub 2012 Feb 3. Blood. 2012. PMID: 22308292 Free article.
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.
Schuetz C, Neven B, Dvorak CC, Leroy S, Ege MJ, Pannicke U, Schwarz K, Schulz AS, Hoenig M, Sparber-Sauer M, Gatz SA, Denzer C, Blanche S, Moshous D, Picard C, Horn BN, de Villartay JP, Cavazzana M, Debatin KM, Friedrich W, Fischer A, Cowan MJ. Schuetz C, et al. Blood. 2014 Jan 9;123(2):281-9. doi: 10.1182/blood-2013-01-476432. Epub 2013 Oct 21. Blood. 2014. PMID: 24144642 Free PMC article.
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. Mathieu AL, et al. Among authors: schuetz c. J Allergy Clin Immunol. 2015 Jun;135(6):1578-88.e5. doi: 10.1016/j.jaci.2015.01.040. Epub 2015 Apr 2. J Allergy Clin Immunol. 2015. PMID: 25842288 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: schuetz c. 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: schuetz c. 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.
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.
Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, Slatter M, Cowan MJ, Stepensky P, Al-Mousa H, Al-Zahrani D, Pai SY, Al Herz W, Gaspar HB, Veys P, Oshima K, Imai K, Yabe H, Noroski LM, Wulffraat NM, Sykora KW, Soler-Palacin P, Muramatsu H, Al Hilali M, Moshous D, Debatin KM, Schuetz C, Jacobsen EM, Schulz AS, Schwarz K, Fischer A, Friedrich W, Cavazzana M; European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party. Hoenig M, et al. Among authors: schuetz c. Blood. 2017 May 25;129(21):2928-2938. doi: 10.1182/blood-2016-11-745638. Epub 2017 Mar 22. Blood. 2017. PMID: 28331055 Free PMC article. Clinical Trial.
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, Booth C, Buechner J, Buckley RH, Ouachée-Chardin M, Deripapa E, Drabko K, Eapen M, Feuchtinger T, Finocchi A, Gaspar HB, Ghosh S, Gillio A, Gonzalez-Granado LI, Grunebaum E, Güngör T, Heilmann C, Helminen M, Higuchi K, Imai K, Kalwak K, Kanazawa N, Karasu G, Kucuk ZY, Laberko A, Lange A, Mahlaoui N, Meisel R, Moshous D, Muramatsu H, Parikh S, Pasic S, Schmid I, Schuetz C, Schulz A, Schultz KR, Shaw PJ, Slatter MA, Sykora KW, Tamura S, Taskinen M, Wawer A, Wolska-Kuśnierz B, Cowan MJ, Fischer A, Gennery AR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies; Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE); Center for International Blood and Marrow Transplant Research; Primary Immunodeficiency Treatment Consortium. Slack J, et al. Among authors: schuetz c. J Allergy Clin Immunol. 2018 Jan;141(1):322-328.e10. doi: 10.1016/j.jaci.2017.02.036. Epub 2017 Apr 7. J Allergy Clin Immunol. 2018. PMID: 28392333 Free PMC article.
189 results