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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
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.
Noordzij JG, Verkaik NS, van der Burg M, van Veelen LR, de Bruin-Versteeg S, Wiegant W, Vossen JM, Weemaes CM, de Groot R, Zdzienicka MZ, van Gent DC, van Dongen JJ. Noordzij JG, et al. Among authors: van dongen jj, van gent dc, van veelen lr, van der burg m. Blood. 2003 Feb 15;101(4):1446-52. doi: 10.1182/blood-2002-01-0187. Epub 2002 Oct 24. Blood. 2003. PMID: 12406895 Free 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.
Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency.
Warnatz K, Bossaller L, Salzer U, Skrabl-Baumgartner A, Schwinger W, van der Burg M, van Dongen JJ, Orlowska-Volk M, Knoth R, Durandy A, Draeger R, Schlesier M, Peter HH, Grimbacher B. Warnatz K, et al. Among authors: van dongen jj, van der burg m. Blood. 2006 Apr 15;107(8):3045-52. doi: 10.1182/blood-2005-07-2955. Epub 2005 Dec 29. Blood. 2006. PMID: 16384931 Free article.
An antibody-deficiency syndrome due to mutations in the CD19 gene.
van Zelm MC, Reisli I, van der Burg M, Castaño D, van Noesel CJ, van Tol MJ, Woellner C, Grimbacher B, Patiño PJ, van Dongen JJ, Franco JL. van Zelm MC, et al. Among authors: van noesel cj, van dongen jj, van tol mj, van der burg m. N Engl J Med. 2006 May 4;354(18):1901-12. doi: 10.1056/NEJMoa051568. N Engl J Med. 2006. PMID: 16672701 Free article.
581 results