dr. J.M. van Montfrans Assistant Professor - medical

Immunology patient care

Contact

jmontfra@umcutrecht.nl

Research Programs

Biography

Dr. Joris van Montfrans completed his medical study at the Rijks Universiteit Leiden and his PhD at the Vrije Universiteit Amsterdam. He performed his training as pediatrician at the UMC Utrecht and at Tygerberg Hospital in Cape Town, South Africa. He is a consultant in pediatric immunology since 2009. Dr. van Monfrans works as a clinical doctor and as a researcher in primary immunodeficienies. The research areas he is involved in, include clinical studies into long term complications of antibody deficiencies, and genetic causes of primary immune deficiencies. Together with a research consortium of researchers from immunology and genetic departments, an NGS based test for diagnosis of immune deficiencies has been developed. This method is now used for clinical and research purposes. For the study of long term complications and of genetic causes of immundeficiencies, there is collabroration with the department of immunology and infectious diseases (adults) at the UMC Utrecht, and a national cohort study including all academic centres providing care for immune deficient patient was recently started. He is secretary of the National Working Party for Immnunodeficiencies.

Side Activities

- Secretaris WID (werkgroep immuundeficienties)

- Voorzitter SSPID (stichting samenwerkende centra primaire immuundeficienties)

Research Output (86)

Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation.

van Well G.T.J., Kant Benjamin, Nisterlrooij A, Ekmekci S, Henriet Stefanie, Hoppenreijs E.P.A.H., van Deuren M., van Montfrans JM, Nierkens Stefan, Gul A, van Gijn Marielle 9 dec 2019, In: Clinical and Experimental Rheumatology. 37 , p. 142-146

Immunoglobulin A deficiency in children, an undervalued clinical issue

Koenen M. H.(Mischa), van Montfrans J. M.(Joris), Sanders E. A.M.(Elisabeth), Bogaert D. (Debby), Verhagen L. M.(Lilly) 1 dec 2019, In: Clinical Immunology. 209

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

Yska Hemmo A F, Elsink Kim, Kuijpers Taco W, Frederix Geert W J, van Gijn Mariëlle E, van Montfrans Joris M 15 aug 2019, In: Journal of Clinical Immunology. 39 , p. 577-591 15 p.

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

Seidel Markus G., Kindle Gerhard, Gathmann Benjamin, Quinti Isabella, Buckland Matthew, van Montfrans J., Scheible Raphael, Rusch Stephan, Gasteiger Lukas M., Grimbacher Bodo, Mahlaoui N., Ehl Stephan, Abinun M., Albert Michael, Cohen Sarah Beaussant, Bustamante Jacinta, Cant Andrew, Casanova Jean Laurent, Chapel H., de Saint Basile Genevieve, de Vries Esther, Dokal Inderjeet, Donadieu Jean, Durandy Anne, Edgar D., Espanol Teresa, Etzioni Amos, Fischer A., Gaspar B., Gatti Richard, Gennery Andrew, Grigoriadou S., Holland Steven, Janka Gritta, Kanariou M., Klein Christoph, Lachmann H., Lilic Desa, Manson Ania, Martinez Natalia, Meyts Isabelle, Moes Nicolette, Moshous Despina, Neven Benedicte, Ochs Hans, Picard Capucine, Renner E., Rieux-Laucat Frederic, Seger Reinhard, Soresina Annarosa, 1 jul 2019, In: Journal of Allergy and Clinical Immunology: In Practice. 7 , p. 1763-1770 8 p.

Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency

Aydin Susanne E., Freeman Alexandra F., Al-Herz Waleed, Al-Mousa Hamoud A., Arnaout Rand K., Aydin Roland C., Barlogis Vincent, Belohradsky Bernd H., Bonfim Carmem, Bredius Robbert G., Chu Julia I., Ciocarlie Oana C., Doğu Figen, Gaspar Hubert B., Geha Raif S., Gennery Andrew R., Hauck Fabian, Hawwari Abbas, Hickstein Dennis D., Hoenig Manfred, Ikinciogullari Aydan, Klein Christoph, Kumar Ashish, Ifversen Marianne R.S., Matthes Susanne, Metin Ayse, Neven Benedicte, Pai Sung Yun, Parikh Suhag H., Picard Capucine, Renner Ellen D., Sanal Özden, Schulz Ansgar S., Schuster Friedhelm, Shah Nirali N., Shereck Evan B., Slatter Mary A., Su Helen C., van Montfrans Joris, Woessmann Wilhelm, Ziegler John B., Albert Michael H., 1 mrt 2019, In: Journal of Allergy and Clinical Immunology: In Practice. 7 , p. 848-855 8 p.

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

van Royen Florien S., Moll Sofia A., van Laar Jacob M., van Montfrans Joris M., de Jong Pim A., Mohamed Hoesein Firdaus A.A. 1 mrt 2019, In: European Journal of Radiology. 112 , p. 200-206 7 p.

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

Janssen Willemijn J.M., Grobarova Valeria, Leleux Jardin, Jongeneel Lieneke, van Gijn Marielle, van Montfrans Joris M., Boes Marianne dec 2018, In: Journal of Allergy and Clinical Immunology. 142 , p. 1947-1955

Als je afweer tekort schiet: afweerstoornissen

van Montfrans JM, Kuijpers Taco W. 3 sep 2018, p. 33-46

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

Maccari Maria Elena et al. 16 mrt 2018, In: Frontiers in Immunology. 9 , p. 543

Exhaustion of the CD8<sup>+</sup> T cell compartment in patients with mutations in phosphoinositide 3-kinase delta

Wentink Marjolein W.J., Mueller Yvonne M., Dalm Virgil A.S.H., Driessen Gertjan J., van Hagen P. Martin, van Montfrans Joris M., van der Burg Mirjam, Katsikis Peter D. 7 mrt 2018, In: Frontiers in Immunology. 9