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Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder.
Kaiser FMP, Gruenbacher S, Oyaga MR, Nio E, Jaritz M, Sun Q, van der Zwaag W, Kreidl E, Zopf LM, Dalm VASH, Pel J, Gaiser C, van der Vliet R, Wahl L, Rietman A, Hill L, Leca I, Driessen G, Laffeber C, Brooks A, Katsikis PD, Lebbink JHG, Tachibana K, van der Burg M, De Zeeuw CI, Badura A, Busslinger M. Kaiser FMP, et al. Among authors: van der vliet r, van der burg m, van der zwaag w. J Exp Med. 2022 Sep 5;219(9):e20220498. doi: 10.1084/jem.20220498. Epub 2022 Aug 10. J Exp Med. 2022. PMID: 35947077 Free PMC article.
Educational paper: primary antibody deficiencies.
Driessen G, van der Burg M. Driessen G, et al. Among authors: van der burg m. Eur J Pediatr. 2011 Jun;170(6):693-702. doi: 10.1007/s00431-011-1474-x. Epub 2011 May 5. Eur J Pediatr. 2011. PMID: 21544519 Free PMC article. Review.
New frontiers of primary antibody deficiencies.
van der Burg M, van Zelm MC, Driessen GJ, van Dongen JJ. van der Burg M, et al. Among authors: van dongen jj, van zelm mc. Cell Mol Life Sci. 2012 Jan;69(1):59-73. doi: 10.1007/s00018-011-0836-x. Epub 2011 Nov 1. Cell Mol Life Sci. 2012. PMID: 22042269 Free PMC article. Review.
B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency.
Driessen GJ, van Zelm MC, van Hagen PM, Hartwig NG, Trip M, Warris A, de Vries E, Barendregt BH, Pico I, Hop W, van Dongen JJ, van der Burg M. Driessen GJ, et al. Among authors: van hagen pm, van dongen jj, van der burg m, van zelm mc. Blood. 2011 Dec 22;118(26):6814-23. doi: 10.1182/blood-2011-06-361881. Epub 2011 Oct 31. Blood. 2011. PMID: 22042693 Free article.
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
Driessen GJ, Ijspeert H, Weemaes CM, Haraldsson Á, Trip M, Warris A, van der Flier M, Wulffraat N, Verhagen MM, Taylor MA, van Zelm MC, van Dongen JJ, van Deuren M, van der Burg M. Driessen GJ, et al. Among authors: van dongen jj, van der flier m, van der burg m, van zelm mc, van deuren m. J Allergy Clin Immunol. 2013 May;131(5):1367-75.e9. doi: 10.1016/j.jaci.2013.01.053. Epub 2013 Apr 6. J Allergy Clin Immunol. 2013. PMID: 23566627
Common variable immunodeficiency and idiopathic primary hypogammaglobulinemia: two different conditions within the same disease spectrum.
Driessen GJ, Dalm VA, van Hagen PM, Grashoff HA, Hartwig NG, van Rossum AM, Warris A, de Vries E, Barendregt BH, Pico I, Posthumus S, van Zelm MC, van Dongen JJ, van der Burg M. Driessen GJ, et al. Among authors: van hagen pm, van dongen jj, van rossum am, van der burg m, van zelm mc. Haematologica. 2013 Oct;98(10):1617-23. doi: 10.3324/haematol.2013.085076. Epub 2013 Jun 10. Haematologica. 2013. PMID: 23753020 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.
Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening.
de Pagter AP, Bredius RG, Kuijpers TW, Tramper J, van der Burg M, van Montfrans J, Driessen GJ; Dutch Working Party for Immunodeficiencies. de Pagter AP, et al. Among authors: van der burg m, van montfrans j. Eur J Pediatr. 2015 Sep;174(9):1183-8. doi: 10.1007/s00431-015-2518-4. Epub 2015 Apr 1. Eur J Pediatr. 2015. PMID: 25875249 Free PMC article.
450 results