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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.
Radioimmunotherapy-based conditioning for hematopoietic cell transplantation in children with malignant and nonmalignant diseases.
Schulz AS, Glatting G, Hoenig M, Schuetz C, Gatz SA, Grewendorf S, Sparber-Sauer M, Muche R, Blumstein N, Kropshofer G, Suttorp M, Bunjes D, Debatin KM, Reske SN, Friedrich W. Schulz AS, et al. Among authors: schuetz c. Blood. 2011 Apr 28;117(17):4642-50. doi: 10.1182/blood-2010-06-284349. Epub 2011 Feb 15. Blood. 2011. PMID: 21325170 Free article. Clinical Trial.
Immunological reconstitution in a patient with ZAP-70 deficiency following transfusion of blood lymphocytes from a previously transplanted sibling without conditioning.
Hönig M, Schuetz C, Schwarz K, Rojewski M, Jacobsen E, Lahr G, Debatin KM, Schulz A, Friedrich W. Hönig M, et al. Among authors: schuetz c. Bone Marrow Transplant. 2012 Feb;47(2):305-7. doi: 10.1038/bmt.2011.71. Epub 2011 Mar 28. Bone Marrow Transplant. 2012. PMID: 21441961 No abstract available.
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DFCM, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJD, van den Elsen PJ, Weemaes CM, van der Maarel SM. de Greef JC, et al. Among authors: schuetz c. Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018. Epub 2011 May 19. Am J Hum Genet. 2011. PMID: 21596365 Free PMC article.
188 results