Publications by authors named "Joris van Montfrans"

53Publications

Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.

Clin Immunol 2020 04 5;213:108359. Epub 2020 Feb 5.

Julius Center for Health Sciences and Primary Care, University Medical Centre Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2020.108359DOI Listing
April 2020

Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.

J Clin Immunol 2019 08 28;39(6):577-591. Epub 2019 Jun 28.

Department of Pediatric Immunology and Infectious Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s10875-019-00656-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6697711PMC
August 2019

Automated CT quantification methods for the assessment of interstitial lung disease in collagen vascular diseases: A systematic review.

Eur J Radiol 2019 Mar 24;112:200-206. Epub 2019 Jan 24.

Department of Radiology, Division of Imaging, University Medical Centre Utrecht and Utrecht University, Utrecht, the Netherlands.

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http://dx.doi.org/10.1016/j.ejrad.2019.01.024DOI Listing
March 2019

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.

J Allergy Clin Immunol Pract 2019 Jul - Aug;7(6):1763-1770. Epub 2019 Feb 15.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2019.02.004DOI Listing
September 2020

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Front Immunol 2018 16;9:543. Epub 2018 Mar 16.

Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany.

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http://journal.frontiersin.org/article/10.3389/fimmu.2018.00
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http://dx.doi.org/10.3389/fimmu.2018.00543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863269PMC
May 2019

Proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) controls immune synapse stability in human T cells.

J Allergy Clin Immunol 2018 12 9;142(6):1947-1955. Epub 2018 Feb 9.

Department of Pediatric Immunology and Laboratory of Translational Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.01.030DOI Listing
December 2018

Differential Signalling and Kinetics of Neutrophil Extracellular Trap Release Revealed by Quantitative Live Imaging.

Sci Rep 2017 07 26;7(1):6529. Epub 2017 Jul 26.

Laboratory of Translational Immunology, Department of Immunology, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/s41598-017-06901-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529471PMC
July 2017

IgG trough levels and progression of pulmonary disease in pediatric and adult common variable immunodeficiency disorder patients.

J Allergy Clin Immunol 2017 07 23;140(1):303-306.e4. Epub 2017 Jan 23.

Division of Internal Medicine and Dermatology, Department of Infectious Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.jaci.2016.11.050DOI Listing
July 2017

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Blood 2016 06 25;127(25):3154-64. Epub 2016 Apr 25.

Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Medical School, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Department of Infectious and Tropical Diseases, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1182/blood-2015-11-679902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920021PMC
June 2016

Antigen-specific IgA titres after 23-valent pneumococcal vaccine indicate transient antibody deficiency disease in children.

Vaccine 2015 Nov 28;33(46):6320-6. Epub 2015 Sep 28.

Department of Pediatric Immunology and Infectious Diseases/Laboratory of Translational Immunology, Wilhelmina Children's Hospital, University Medical Center, Lundlaan 6, 3508 AB Utrecht, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0264410X150131
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http://dx.doi.org/10.1016/j.vaccine.2015.09.041DOI Listing
November 2015

A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation.

Oncotarget 2015 Aug;6(24):20037-42

Paediatric Immunology, Laboratory of Translational Immunology LTI, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652985PMC
http://dx.doi.org/10.18632/oncotarget.5042DOI Listing
August 2015

Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4+ T-cell help.

Oncotarget 2015 May;6(13):10759-71

Department of Pediatric Immunology, Laboratory of Translational Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484417PMC
http://dx.doi.org/10.18632/oncotarget.3577DOI Listing
May 2015

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

J Clin Immunol 2015 May 17;35(4):416-30. Epub 2015 Apr 17.

Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Lundlaan 6, PO Box 85090, 3508 AB, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s10875-015-0152-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438204PMC
May 2015

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

Eur J Pediatr 2015 Sep 1;174(9):1183-8. Epub 2015 Apr 1.

Department of Pediatrics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands,

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http://dx.doi.org/10.1007/s00431-015-2518-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4539359PMC
September 2015

Viral PCR positivity in stool before allogeneic hematopoietic cell transplantation is strongly associated with acute intestinal graft-versus-host disease.

Biol Blood Marrow Transplant 2015 Apr 15;21(4):772-4. Epub 2015 Jan 15.

Department of Pediatric Immunology and Infectious Diseases, University Medical Center/Wilhelmina Children's Hospital, Utrecht, Netherlands; U-DANCE, Section Tumor Immunology, Laboratory for Translational Immunology, UMC Utrecht, Utrecht, Netherlands.

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http://dx.doi.org/10.1016/j.bbmt.2015.01.009DOI Listing
April 2015

A novel FcγRIIa Q27W gene variant is associated with common variable immune deficiency through defective FcγRIIa downstream signaling.

Clin Immunol 2014 Nov 19;155(1):108-17. Epub 2014 Sep 19.

Laboratory of Translational Immunology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2014.09.006DOI Listing
November 2014

Mutant ADA2 in vasculopathies.

N Engl J Med 2014 07;371(5):478

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http://dx.doi.org/10.1056/NEJMc1405506DOI Listing
July 2014

Measurement of pneumococcal polysaccharide vaccine responses for immunodeficiency diagnostics: combined IgG responses compared to serotype specific IgG responses.

J Clin Immunol 2014 Jan 24;34(1):3-6. Epub 2013 Jul 24.

Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht/Wilhelmina Children's Hospital, KC 03.063.0, Lundlaan 6, PO Box 85090, 3508 AB, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s10875-013-9925-yDOI Listing
January 2014

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

Eur J Hum Genet 2013 Oct 23;21(10):1079-84. Epub 2013 Jan 23.

1] Chronic Granulomatous Disease Diagnosis and Research Centre, Therex-TIMC/Imag, UMR CNRS 5525, UJF-Grenoble 1, Grenoble, France [2] Pôle Biologie, CHU de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1038/ejhg.2012.310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778347PMC
October 2013

CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia.

J Allergy Clin Immunol 2012 Mar 24;129(3):787-793.e6. Epub 2011 Dec 24.

Departments of Pediatric Immunology and Infectious Diseases, Wilhelmina Children's Hospital/University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.jaci.2011.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3294016PMC
March 2012

Defective calcium signaling and disrupted CD20-B-cell receptor dissociation in patients with common variable immunodeficiency disorders.

J Allergy Clin Immunol 2012 Mar 30;129(3):755-761.e7. Epub 2011 Nov 30.

Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht and Wilhelmina Children's Hospital, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.jaci.2011.10.020DOI Listing
March 2012

The role of prolonged viral gastrointestinal infections in the development of immunodeficiency-related enteropathy.

Clin Rev Allergy Immunol 2012 Feb;42(1):79-91

Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht/Wilhelmina Children's Hospital, Utrecht, the Netherlands.

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http://dx.doi.org/10.1007/s12016-011-8292-9DOI Listing
February 2012

Early menopause in mothers of children with Down syndrome?

Fertil Steril 2011 Oct;96(4):985-90

Division of Reproductive Medicine, Department of Obstetrics and Gynaecology, VU University Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.fertnstert.2011.07.1149DOI Listing
October 2011

Pleconaril-resistant chronic parechovirus-associated enteropathy in agammaglobulinaemia.

Antivir Ther 2011 ;16(4):611-4

Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht/Wilhelmina Children's Hospital, Utrecht, the Netherlands.

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http://dx.doi.org/10.3851/IMP1792DOI Listing
October 2011

B-cell defects in common variable immunodeficiency: BCR signaling, protein clustering and hardwired gene mutations.

Crit Rev Immunol 2011 ;31(2):85-98

Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht/Wilhelmina Children's Hospital, Utrecht, The Netherlands.

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http://dx.doi.org/10.1615/critrevimmunol.v31.i2.10DOI Listing
September 2011

A CT scan score for the assessment of lung disease in children with common variable immunodeficiency disorders.

Chest 2010 Aug 18;138(2):371-9. Epub 2010 Mar 18.

Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht and Wilhelmina Children's Hospital, Utrecht, The Netherlands.

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http://dx.doi.org/10.1378/chest.09-2398DOI Listing
August 2010

Lymphocyte characteristics in children with common variable immunodeficiency.

Clin Immunol 2010 Apr 16;135(1):63-71. Epub 2009 Dec 16.

Department of Pediatric Immunology and Infectious Diseases, Wilhelmina Children's Hospital, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.clim.2009.11.010DOI Listing
April 2010

Detection of pulmonary complications in common variable immunodeficiency.

Pediatr Allergy Immunol 2010 Aug 13;21(5):793-805. Epub 2009 Nov 13.

Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht and Wilhelmina Children's Hospital, Utrecht, The Netherlands.

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http://dx.doi.org/10.1111/j.1399-3038.2009.00963.xDOI Listing
August 2010

Life-threatening human herpes virus-6 infection in early childhood: presenting symptom of a primary immunodeficiency?

Pediatr Crit Care Med 2009 Mar;10(2):e16-8

Department of Pediatric Intensive Care, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1097/PCC.0b013e31819bb956DOI Listing
March 2009

Fatal hemophagocytic lymphohistiocytosis in X-linked chronic granulomatous disease associated with a perforin gene variant.

Pediatr Blood Cancer 2009 Apr;52(4):527-9

Department of Pediatric Immunology, Wilhelmina Children's Hospital/University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/pbc.21851DOI Listing
April 2009