Research Topics
Genomes and Genes | Mirjam van der BurgSummaryAffiliation: Erasmus MC Country: The Netherlands Publications
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Publications
New frontiers of primary antibody deficienciesMirjam van der Burg
Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
Cell Mol Life Sci 69:59-73. 2012..In this review, we present the effects of genetic defects in the context of normal B cell differentiation, and we discuss how new technical developments can support understanding and discovering new genetic defects in PAD...- DNA-PKcs deficiency in human: long predicted, finally foundMirjam van der Burg
Department of Immunology, Erasmus MC, Rotterdam, The Netherlands
Curr Opin Allergy Clin Immunol 9:503-9. 2009.... 
Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiencyMirjam van der Burg
Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 50, Rotterdam 3015 GE, The Netherlands
Eur J Pediatr 170:561-71. 2011..In this educational review, we describe the immunopathological background, clinical presentations and diagnostic process of SCID, as well as the therapeutic possibilities...- Standardization of DNA isolation from low cell numbers for chimerism analysis by PCR of short tandem repeatsM van der Burg
Department of Immunology, Erasmus MC, Rotterdam, The Netherlands
Leukemia 25:1467-70. 2011..In conclusion, the direct lysis method using detergents and proteinase K is a standardized DNA isolation method well suited for chimerism studies on low cell numbers... - A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joiningMirjam van der Burg
Department of Immunology, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands
J Clin Invest 119:91-8. 2009..Further, the data suggest that residual DNA-PKcs activity is indispensable in humans... 
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrowJeroen G Noordzij
Department of Immunology, Erasmus MC University Medical Center Rotterdam, The Netherlands
Blood 101:1446-52. 2003..The completeness of this arrest illustrates the importance of Artemis at this stage of lymphoid differentiation...- Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patientsMirjam van der Burg
Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
Blood 115:4770-7. 2010..Based on these observations, we conclude that the quantitative defect will affect the B-cell receptor repertoire, thus contributing to the observed immunodeficiency in NBS patients... - B-cell recovery after stem cell transplantation of Artemis-deficient SCID requires elimination of autologous bone marrow precursor-B-cellsMirjam van der Burg
Department of Immunology, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
Haematologica 91:1705-9. 2006..Apparently, occupation of the precursor-B-cell niches is a potential dominant factor influencing repopulation of a functional B-cell compartment in B-negative SCID... - An antibody-deficiency syndrome due to mutations in the CD19 geneMenno C van Zelm
Department of Immunology, Erasmus MC, The Netherlands
N Engl J Med 354:1901-12. 2006..The CD19 protein forms a complex with CD21, CD81, and CD225 in the membrane of mature B cells. Together with the B-cell antigen receptor, this complex signals the B cell to decrease its threshold for activation by the antigen... - Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in immunoglobulin superfamily domain formationMenno C van Zelm
Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, NL 3015 GE, The Netherlands
Hum Mol Genet 20:1854-63. 2011..This first missense mutation resulting in a CD19 deficiency demonstrates the crucial role of a highly conserved tryptophan in proper folding or stability of IgSF domains... - B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiencyGertjan J Driessen
Department of Pediatric Infectious Disease and Immunology, Erasmus Medical Center, University Medical Center Rotterdam, The Netherlands
Blood 118:6814-23. 2011..Moreover, this study forms the basis for larger cohort studies with the defined homogenous patient groups and will facilitate the identification of underlying genetic defects in CVID... - Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiencyTuba Turul
Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Dr Molewaterplein 50, 3015 GE, Rotterdam, The Netherlands
Eur J Pediatr 168:87-93. 2009.... - Homeostatic and maturation-associated proliferation in the peripheral B-cell compartmentMenno C van Zelm
Erasmus MC, University Medical Center, Department of Immunology, Rotterdam, The Netherlands
Cell Cycle 6:2890-5. 2007.... - Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretchesMirjam van der Burg
Department of Immunology, Erasmus MC, Rotterdam, The Netherlands
Eur J Immunol 37:3522-8. 2007..The V(D)J recombination assays used in this study contribute to the diagnostic strategy for T-B-NK+ SCID patients... - A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutationMirjam van der Burg
Department of Immunology and Department of Cell Biology and Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
J Clin Invest 116:137-45. 2006..In conclusion, different LIG4 mutations can result in either a developmental defect with minor immunological abnormalities or a SCID picture with normal development... - Checkpoints of B cell differentiation: visualizing Ig-centric processesMagdalena A Berkowska
Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
Ann N Y Acad Sci 1246:11-25. 2011..We discuss how defects in these processes can result in impaired checkpoint selection and how they can be visualized in healthy subjects and patients with immunodeficiency or other immunological disease... - Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansionMenno C van Zelm
Erasmus MC, Department of Immunology, 3015 GE Rotterdam, Netherlands
J Exp Med 204:645-55. 2007.... - Human memory B cells originate from three distinct germinal center-dependent and -independent maturation pathwaysMagdalena A Berkowska
Department of Immunology, Erasmus MC, Rotterdam, The Netherlands
Blood 118:2150-8. 2011..Our findings shed light on human germinal center-dependent and -independent B-cell memory formation and provide new opportunities to study these processes in immunologic diseases... - CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiencyMenno C van Zelm
Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands
J Clin Invest 120:1265-74. 2010..These findings may contribute to unraveling the genetic basis of antibody deficiency syndromes and the nonredundant functions of CD81 in humans... - Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elementsMenno C van Zelm
Department of Immunology, Erasmus MC, 3015 GE Rotterdam, The Netherlands
Am J Hum Genet 82:320-32. 2008..Thus, to our knowledge for the first time, we provide evidence that a high TE content, irrespective of the type of element, results in the increased incidence of gross deletions as gene disruption underlying human disease... - New insights and unresolved issues regarding insertional mutagenesis in X-linked SCID gene therapyKarin Pike Overzet
Department of Immunology, Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands
Mol Ther 15:1910-6. 2007..Finally, we review some newly developed murine models that may have added value for gene therapy safety studies... - Ig gene rearrangement steps are initiated in early human precursor B cell subsets and correlate with specific transcription factor expressionMenno C van Zelm
Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
J Immunol 175:5912-22. 2005.... - Real-time quantitative (RQ-)PCR approach to quantify the contribution of proliferation to B lymphocyte homeostasisMenno C van Zelm
Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
Methods Mol Biol 979:133-45. 2013..The approach is useful to study the contribution of proliferation to B-cell homeostasis in health and disease... - PID Comes Full Circle: Applications of V(D)J Recombination Excision Circles in Research, Diagnostics and Newborn Screening of Primary Immunodeficiency DisordersMenno C van Zelm
Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Netherlands
Front Immunol 2:12. 2011..Furthermore, we discuss new insights obtained with TRECs and KRECs and specifically how these excision circles can be applied to support therapy monitoring, patient classification and newborn screening of PID... - Unraveling of the polymorphic C lambda 2-C lambda 3 amplification and the Ke+Oz- polymorphism in the human Ig lambda locusMirjam van der Burg
Department of Immunology, Erasmus University Rotterdam University Hospital Rotterdam, Rotterdam, The Netherlands
J Immunol 169:271-6. 2002..5% (2 of 134) of individuals without J-C(lambda)2 amplification polymorphism and was not found in the J-C(lambda)2 amplification polymorphism of 44 individuals, indicating that the two IGL gene polymorphisms are not linked... - Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantationDeniz Cağdaş
Department of Pediatrics, Section of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey
Pediatr Transplant 16:E167-71. 2012..Now, both of the patients are well and alive seven and one yr after transplantation, respectively. A remarkable observation was the severe diarrhea that occurred in both patients soon after transplantation... - Comparative analysis of Ig and TCR gene rearrangements at diagnosis and at relapse of childhood precursor-B-ALL provides improved strategies for selection of stable PCR targets for monitoring of minimal residual diseaseTomasz Szczepanski
Department of Immunology, University Hospital Rotterdam Erasmus University Rotterdam, 3000 DR Rotterdam, The Netherlands
Blood 99:2315-23. 2002..Based on the presented data, we propose stepwise strategies for selection of stable PCR targets for MRD monitoring, which should enable successful detection of relapse in most (95%) of childhood precursor-B-ALL...