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List of works by Mirjam van der Burg

A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.

scientific article published on 15 December 2008

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

scientific article

A novel radiosensitive SCID patient with a pronounced G(2)/M sensitivity

scientific article

A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells

scientific article published on 12 February 2013

Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.

scientific article published on 11 September 2015

An antibody-deficiency syndrome due to mutations in the CD19 gene

scientific article (publication date: 4 May 2006)

Anti-TNF treatment blocks the induction of T cell-dependent humoral responses ⬇️

scientific article published on September 11, 2012

Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.

scientific article published on 6 April 2013

Antigen Receptor Galaxy: A User-Friendly, Web-Based Tool for Analysis and Visualization of T and B Cell Receptor Repertoire Data

scientific article

B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.

scientific article published on 5 February 2014

B-cell recovery after stem cell transplantation of Artemis-deficient SCID requires elimination of autologous bone marrow precursor-B-cells

scientific article published on 01 December 2006

B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency

scientific article published on 31 October 2011

CD21 and CD19 deficiency: Two defects in the same complex leading to different disease modalities

scientific article published on 29 August 2015

CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency

scientific article

Changes in Healthy Human IgG Fc-Glycosylation after Birth and during Early Childhood.

scientific article

Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells.

scholarly article

Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.

scientific article published on 21 December 2016

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

scientific article published on 29 May 2008

Combined immunodeficiencies: twenty years experience from a single center in Turkey

scientific article published on 20 January 2016

Common variable immunodeficiency and idiopathic primary hypogammaglobulinemia: two different conditions within the same disease spectrum

scientific article published on 10 June 2013

DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells

scientific article

DNA-PKcs deficiency in human: long predicted, finally found.

scientific article published on December 2009

Decreased IL7Rα and TdT expression underlie the skewed immunoglobulin repertoire of human B-cell precursors from fetal origin

scientific article published on 23 September 2016

Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint

scientific article published on 04 October 2016

Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretches

scientific article published in December 2007

Defective B-cell memory in patients with Down syndrome

scientific article published on 23 August 2014

Defective formation of IgA memory B cells, Th1 and Th17 cells in symptomatic patients with selective IgA deficiency

scientific article published on 29 April 2020

Deficiencies in the CD19 complex

scientific article published on 31 July 2018

Diagnosing mycobacterial lymphadenitis in children using fine needle aspiration biopsy: cytomorphology, ZN staining and autofluorescence -- making more of less.

scientific article

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells

scientific article

Dissection of B-cell development to unravel defects in patients with a primary antibody deficiency

scientific article published on January 2011

Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective

scientific article published on 11 November 2019

Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency

scientific article published on 09 April 2011

Educational paper: primary antibody deficiencies

scientific article (publication date: June 2011)

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children

scientific article published on 19 March 2020

Evaluation of the Antigen-Experienced B-Cell Receptor Repertoire in Healthy Children and Adults

scientific article published on 17 October 2016

Exhaustion of the CD8+ T Cell Compartment in Patients with Mutations in Phosphoinositide 3-Kinase Delta.

scientific article published on 7 March 2018

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

scientific article published on 25 April 2015

Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.

scientific article

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.

scientific article

Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.

scientific article published on 16 January 2017

GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

scientific article

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

scientific article published on 13 March 2013

Homeostatic and maturation-associated proliferation in the peripheral B-cell compartment.

scientific article published on December 2007

Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome

scientific article

Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation.

scientific article published on 11 January 2014

Human memory B cells originate from three distinct germinal center-dependent and -independent maturation pathways

scientific article published on 20 June 2011

Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development

scientific article published on 07 January 2014

Ig gene rearrangement steps are initiated in early human precursor B cell subsets and correlate with specific transcription factor expression

scientific article published on 01 November 2005

Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study

scientific article

ImmunoGlobulin galaxy (IGGalaxy) for simple determination and quantitation of immunoglobulin heavy chain rearrangements from NGS

scientific article published on 13 December 2014

Immunoglobulin gene rearrangements and the pathogenesis of multiple myeloma.

scientific article published on 18 July 2007

Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency.

scientific article published on 13 August 2016

Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination

scientific article published on 15 December 2008

Iris atrophy in a patient with X-linked agammaglobulinemia

scientific article published on 01 December 2007

Late-onset adenosine deaminase deficiency presenting with Heck's disease

scientific article published on 29 December 2009

Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.

scientific article published on 8 April 2010

Molecular diagnostics of primary immunodeficiencies: benefits and future challenges

scientific article

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

scientific article

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

scientific article published on 5 March 2015

New frontiers of primary antibody deficiencies.

scientific article

New insights and unresolved issues regarding insertional mutagenesis in X-linked SCID gene therapy

scientific article published on 28 August 2007

No significant prognostic value of normal precursor B-cell regeneration in paediatric acute myeloid leukaemia after induction treatment

scientific article published on 12 April 2013

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

scientific article published on 02 April 2015

Optimization and testing of dried antibody tube: The EuroFlow LST and PIDOT tubes as examples

scientific article published on 21 March 2017

Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening

scientific article

PID comes full circle: applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders.

scientific article published on 4 May 2011

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

scientific article published on 2 April 2015

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands

scientific article published on 18 October 2020

Persistent subclinical immune defects in HIV-1-infected children treated with antiretroviral therapy

scientific article published on September 2015

Precursor B-cell development in bone marrow of Good syndrome patients

scientific article published on 25 January 2019

Primary Immune Deficiency Treatment Consortium (PIDTC) report

scientific article published on 15 October 2013

Protein functionality as a potential bottleneck for somatic revertant variants

scientific article published on 15 May 2020

Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.

scientific article

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency

scientific article published on 15 April 2020

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

scientific article published on 4 August 2017

Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion

scientific article

Role of Artemis in DSB repair and guarding chromosomal stability following exposure to ionizing radiation at different stages of cell cycle.

scientific article published on 12 December 2006

Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes

scientific article published on 11 January 2014

Strategies for B-cell receptor repertoire analysis in primary immunodeficiencies: from severe combined immunodeficiency to common variable immunodeficiency

scientific article published on 08 April 2015

T and B Cell Markers in Dried Blood Spots of Neonates with Congenital Cytomegalovirus Infection: B Cell Numbers at Birth Are Associated with Long-Term Outcomes.

scientific article published on 30 November 2016

TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review

scientific article published on 17 April 2015

The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency

scientific article

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

scientific article published on 10 June 2020

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency ⬇️

scientific article published on 17 January 2011

Unraveling of the polymorphic C lambda 2-C lambda 3 amplification and the Ke+Oz- polymorphism in the human Ig lambda locus

scientific article published on 01 July 2002

Unraveling the repertoire in wiskott-Aldrich syndrome

scientific article

Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans

scientific article

Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells

scientific article published on 21 January 2013

XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.

scientific article

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