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Page 1
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: van tol mjd, van der maarel sm, van ostaijen ten dam mm, van den elsen pj, van der burg m, van eggermond mc. 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.
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. IJspeert H, et al. Among authors: van dongen jj, van gent dc, van der burg m, van montfrans jm. J Allergy Clin Immunol. 2014 Apr;133(4):1124-33. doi: 10.1016/j.jaci.2013.11.028. Epub 2014 Jan 11. J Allergy Clin Immunol. 2014. PMID: 24418478 Free PMC article.
B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.
Brigida I, Sauer AV, Ferrua F, Giannelli S, Scaramuzza S, Pistoia V, Castiello MC, Barendregt BH, Cicalese MP, Casiraghi M, Brombin C, Puck J, Müller K, Notarangelo LD, Montin D, van Montfrans JM, Roncarolo MG, Traggiai E, van Dongen JJ, van der Burg M, Aiuti A. Brigida I, et al. Among authors: van dongen jj, van der burg m, van montfrans jm. J Allergy Clin Immunol. 2014 Mar;133(3):799-806.e10. doi: 10.1016/j.jaci.2013.12.1043. Epub 2014 Feb 5. J Allergy Clin Immunol. 2014. PMID: 24506932 Free PMC article.
B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome.
Castiello MC, Scaramuzza S, Pala F, Ferrua F, Uva P, Brigida I, Sereni L, van der Burg M, Ottaviano G, Albert MH, Grazia Roncarolo M, Naldini L, Aiuti A, Villa A, Bosticardo M. Castiello MC, et al. Among authors: van der burg m. J Allergy Clin Immunol. 2015 Sep;136(3):692-702.e2. doi: 10.1016/j.jaci.2015.01.035. Epub 2015 Mar 16. J Allergy Clin Immunol. 2015. PMID: 25792466 Free PMC article. Clinical Trial.
Strategies for B-cell receptor repertoire analysis in primary immunodeficiencies: from severe combined immunodeficiency to common variable immunodeficiency.
IJspeert H, Wentink M, van Zessen D, Driessen GJ, Dalm VA, van Hagen MP, Pico-Knijnenburg I, Simons EJ, van Dongen JJ, Stubbs AP, van der Burg M. IJspeert H, et al. Among authors: van dongen jj, van zessen d, van hagen mp, van der burg m. Front Immunol. 2015 Apr 8;6:157. doi: 10.3389/fimmu.2015.00157. eCollection 2015. Front Immunol. 2015. PMID: 25904919 Free PMC article. Review.
Identification of checkpoints in human T-cell development using severe combined immunodeficiency stem cells.
Wiekmeijer AS, Pike-Overzet K, IJspeert H, Brugman MH, Wolvers-Tettero IL, Lankester AC, Bredius RG, van Dongen JJ, Fibbe WE, Langerak AW, van der Burg M, Staal FJ. Wiekmeijer AS, et al. Among authors: van dongen jj, van der burg m. J Allergy Clin Immunol. 2016 Feb;137(2):517-526.e3. doi: 10.1016/j.jaci.2015.08.022. Epub 2015 Oct 4. J Allergy Clin Immunol. 2016. PMID: 26441229
450 results