Mirjam van der Burg

Summary

Affiliation: Erasmus MC
Country: The Netherlands

Publications

  1. pmc Common variable immunodeficiency and idiopathic primary hypogammaglobulinemia: two different conditions within the same disease spectrum
    Gertjan J Driessen
    Haematologica 98:1617-23. 2013
  2. ncbi request reprint DNA-PKcs deficiency in human: long predicted, finally found
    Mirjam van der Burg
    Department of Immunology, Erasmus MC, Rotterdam, The Netherlands
    Curr Opin Allergy Clin Immunol 9:503-9. 2009
  3. pmc Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency
    Mirjam 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
  4. doi request reprint Standardization of DNA isolation from low cell numbers for chimerism analysis by PCR of short tandem repeats
    M van der Burg
    Department of Immunology, Erasmus MC, Rotterdam, The Netherlands
    Leukemia 25:1467-70. 2011
  5. doi request reprint New frontiers of primary antibody deficiencies
    Mirjam 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
  6. pmc A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining
    Mirjam van der Burg
    Department of Immunology, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands
    J Clin Invest 119:91-8. 2009
  7. doi request reprint B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency
    Gertjan J Driessen
    Department of Pediatric Infectious Disease and Immunology, Erasmus Medical Center, University Medical Center Rotterdam, The Netherlands
    Blood 118:6814-23. 2011
  8. ncbi request reprint Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow
    Jeroen G Noordzij
    Department of Immunology, Erasmus MC University Medical Center Rotterdam, The Netherlands
    Blood 101:1446-52. 2003
  9. ncbi request reprint B-cell recovery after stem cell transplantation of Artemis-deficient SCID requires elimination of autologous bone marrow precursor-B-cells
    Mirjam van der Burg
    Department of Immunology, Erasmus MC, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    Haematologica 91:1705-9. 2006
  10. ncbi request reprint Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients
    Mirjam van der Burg
    Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
    Blood 115:4770-7. 2010

Collaborators

Detail Information

Publications34

  1. pmc Common variable immunodeficiency and idiopathic primary hypogammaglobulinemia: two different conditions within the same disease spectrum
    Gertjan J Driessen
    Haematologica 98:1617-23. 2013
    ....
  2. ncbi request reprint DNA-PKcs deficiency in human: long predicted, finally found
    Mirjam van der Burg
    Department of Immunology, Erasmus MC, Rotterdam, The Netherlands
    Curr Opin Allergy Clin Immunol 9:503-9. 2009
    ....
  3. pmc Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency
    Mirjam 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...
  4. doi request reprint Standardization of DNA isolation from low cell numbers for chimerism analysis by PCR of short tandem repeats
    M 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...
  5. doi request reprint New frontiers of primary antibody deficiencies
    Mirjam 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...
  6. pmc A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining
    Mirjam 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...
  7. doi request reprint B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency
    Gertjan 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...
  8. ncbi request reprint Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow
    Jeroen 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...
  9. ncbi request reprint B-cell recovery after stem cell transplantation of Artemis-deficient SCID requires elimination of autologous bone marrow precursor-B-cells
    Mirjam 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...
  10. ncbi request reprint Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients
    Mirjam 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...
  11. pmc A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation
    Mirjam 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...
  12. ncbi request reprint An antibody-deficiency syndrome due to mutations in the CD19 gene
    Menno 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...
  13. doi request reprint Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in immunoglobulin superfamily domain formation
    Menno 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...
  14. ncbi request reprint Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes
    Hanna Ijspeert
    Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
    J Allergy Clin Immunol 133:1124-33. 2014
    ..It is known that different mutations in RAG genes vary in residual recombinase activity and give rise to a broad spectrum of clinical phenotypes...
  15. pmc Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities
    Hanna I Jspeert
    Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands Department of Pediatrics, Erasmus MC, Rotterdam, The Netherlands
    Hum Mutat 34:1611-4. 2013
    ..This is remarkable since Lig4 knockout mice are embryonic lethal and so far in humans no complete LIG4 deficiencies have been described. This case broadens the clinical spectrum of LIG4 deficiencies. ..
  16. doi request reprint Real-time quantitative (RQ-)PCR approach to quantify the contribution of proliferation to B lymphocyte homeostasis
    Menno 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...
  17. doi request reprint Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity
    Gertjan J Driessen
    Department of Pediatric Infectious Disease and Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
    J Allergy Clin Immunol 131:1367-75.e9. 2013
    ..ATM is important for V(D)J recombination and immunoglobulin class-switch recombination (CSR); however, little is known about the mechanisms resulting in antibody deficiency severity...
  18. doi request reprint Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency
    Tuba 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
    ....
  19. ncbi request reprint Homeostatic and maturation-associated proliferation in the peripheral B-cell compartment
    Menno C van Zelm
    Erasmus MC, University Medical Center, Department of Immunology, Rotterdam, The Netherlands
    Cell Cycle 6:2890-5. 2007
    ....
  20. ncbi request reprint Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretches
    Mirjam 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...
  21. pmc Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements
    Menno 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...
  22. doi request reprint Checkpoints of B cell differentiation: visualizing Ig-centric processes
    Magdalena 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...
  23. ncbi request reprint Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation
    Menno C van Zelm
    Department of Immunology, Erasmus MC, Rotterdam, The Netherlands Electronic address
    J Allergy Clin Immunol 134:135-144.e7. 2014
    ..Individuals with genetic defects in CD40 ligand (CD40L) or B-cell antigen receptor coreceptor molecules CD19 and CD81 suffer from an antibody deficiency. Still, these patients carry low levels of memory B cells and serum antibodies...
  24. pmc Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion
    Menno C van Zelm
    Erasmus MC, Department of Immunology, 3015 GE Rotterdam, Netherlands
    J Exp Med 204:645-55. 2007
    ....
  25. pmc Human memory B cells originate from three distinct germinal center-dependent and -independent maturation pathways
    Magdalena 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...
  26. pmc CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency
    Menno 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...
  27. ncbi request reprint Unraveling of the polymorphic C lambda 2-C lambda 3 amplification and the Ke+Oz- polymorphism in the human Ig lambda locus
    Mirjam 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...
  28. doi request reprint No significant prognostic value of normal precursor B-cell regeneration in paediatric acute myeloid leukaemia after induction treatment
    Anne E Bras
    Department of Immunology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands
    Br J Haematol 161:861-4. 2013
    ..Therefore, BCP regeneration does not reflect good response to treatment in paediatric AML, possibly due to the relatively high base-line levels of BCP in children...
  29. ncbi request reprint Ig gene rearrangement steps are initiated in early human precursor B cell subsets and correlate with specific transcription factor expression
    Menno C van Zelm
    Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
    J Immunol 175:5912-22. 2005
    ....
  30. ncbi request reprint New insights and unresolved issues regarding insertional mutagenesis in X-linked SCID gene therapy
    Karin 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...
  31. pmc PID Comes Full Circle: Applications of V(D)J Recombination Excision Circles in Research, Diagnostics and Newborn Screening of Primary Immunodeficiency Disorders
    Menno 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...
  32. doi request reprint Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation
    Deniz 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...
  33. ncbi request reprint 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 disease
    Tomasz 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...