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A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells.
Kuijpers TW, van Leeuwen EM, Barendregt BH, Klarenbeek P, aan de Kerk DJ, Baars PA, Jansen MH, de Vries N, van Lier RA, van der Burg M. Kuijpers TW, et al. Among authors: van lier ra, van leeuwen em, van der burg m. Haematologica. 2013 Jul;98(7):1030-8. doi: 10.3324/haematol.2012.077511. Epub 2013 Feb 12. Haematologica. 2013. PMID: 23403317 Free PMC article.
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
van der Burg M, van Veelen LR, Verkaik NS, Wiegant WW, Hartwig NG, Barendregt BH, Brugmans L, Raams A, Jaspers NG, Zdzienicka MZ, van Dongen JJ, van Gent DC. van der Burg M, et al. Among authors: van dongen jj, van gent dc, van veelen lr. J Clin Invest. 2006 Jan;116(1):137-45. doi: 10.1172/JCI26121. Epub 2005 Dec 15. J Clin Invest. 2006. PMID: 16357942 Free PMC article.
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.
Turul T, Tezcan I, Artac H, de Bruin-Versteeg S, Barendregt BH, Reisli I, Sanal O, van Dongen JJ, van der Burg M. Turul T, et al. Among authors: van dongen jj, van der burg m. Eur J Pediatr. 2009 Jan;168(1):87-93. doi: 10.1007/s00431-008-0718-x. Epub 2008 May 29. Eur J Pediatr. 2009. PMID: 18509675
Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.
van der Burg M, Pac M, Berkowska MA, Goryluk-Kozakiewicz B, Wakulinska A, Dembowska-Baginska B, Gregorek H, Barendregt BH, Krajewska-Walasek M, Bernatowska E, van Dongen JJ, Chrzanowska KH, Langerak AW. van der Burg M, et al. Among authors: van dongen jj. Blood. 2010 Jun 10;115(23):4770-7. doi: 10.1182/blood-2009-10-250514. Epub 2010 Apr 8. Blood. 2010. PMID: 20378756 Free article.
A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity.
Kuijpers TW, Baars PA, Aan de Kerk DJ, Jansen MH, Derks IA, Bredius RG, Sanders EA, van der Burg M, Alders M, van Lier RA. Kuijpers TW, et al. Among authors: van lier ra, van der burg m. J Allergy Clin Immunol. 2011 Dec;128(6):1360-1363.e4. doi: 10.1016/j.jaci.2011.07.001. Epub 2011 Aug 9. J Allergy Clin Immunol. 2011. PMID: 21831415 No abstract available.
444 results