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1997 …2026

Research activity per year

Personal profile

Biography

Dr. Joris van Montfrans is an Associate Professor of Pediatric Immunology in the UMC Utrecht. He completed his medical study at the Rijks Universiteit Leiden and his PhD at the Vrije Universiteit Amsterdam. He performed his pediatric training at the UMC Utrecht and at Tygerberg Hospital in Cape Town, South Africa. He is a consultant in pediatric immunology since 2009. Dr. van Montfrans works as a clinical doctor and as a researcher in the field of primary immunodeficiencies. He is currently the head of the combined departments of pediatric immunology, -infectious diseases, -rheumatology and -hematology. The research areas he is involved in include genetic causes of primary immune deficiencies and long term complications of antibody deficiencies. He is the principal investigator for a national study assessing efficacy of early screening for genetic causes of immunodeficiencies. He is also the principal investigator in a study into auto-immune complications in CVID, and recently started a national RCT exploring the optimal dose of IgRT in CVID patients. He is secretary of the National Working Party for Immunodeficiencies and member of the eGLILD consortium steering committee. He is an active teacher involved in of training medical students and as such he is involved organizing EUREKA summer schools.

Collaborations and top research areas from the last five years

Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
  • Clinical practice guideline for the diagnosis of granulomatous-lymphocytic interstitial lung disease in patients with common variable immunodeficiency disorders: an ERS Clinical Research Collaboration

    Bintalib, H. M., van de Ven, A. A. J. M., Rojas-Reyes, M. X., Davidsen, J. R., Hanitsch, L. G., Cinetto, F., Malphettes, M., Van Montfrans, J. M., Jacob, J., Milito, C., Haerynck, F., Strauss, F., Cool, C., Calderon-Jaramillo, M., Lopez-Mujica, X., Maglione, P., Trujillo-Martin, M. M., Fevang, B., Routes, J. & Hurst, J. R. & 2 others, Warnatz, K. & ESID Clinical Guideline Working Party; ERS e-GLILDnet Clinical Research Collaboration, Sept 2026, In: The European respiratory journal. 68, 3, 2502224.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
  • Epidemiology and management of malignancies in patients with inborn errors of immunity—An ESID registry study of 19,959 patients

    Bogaert, D., Wolfsberger, C. H., Attarbaschi, A., Gathmann, J., Warnatz, K., Mueller, G., Mukhina, A., Rusch, S., ESID Registry Working Party, Kindle, G., van Montfrans, J. M. & Seidel, M. G., Mar 2026, In: Journal of Allergy and Clinical Immunology. 157, 3, p. 739-753 15 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    14 Downloads (Pure)
  • Germline LCP1 mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia and defective cytokinesis

    van Bergen, T., Bosch, D., Bellanné-Chantelot, C., Mulet-Lazaro, R., Bledsoe, J. R., Chen, L., de Looper, H. W. J., van Dijk, C., Ter Borg, M., Bindels, E., Hoogenboezem, R., Roovers, O., Olofsen, P. A., Bartels, M., van Montfrans, J. M., Breed, P., Salzer, E., Holierhoek, M. G., Nelken, B. & Beaupain, B. & 7 others, Fleming, M. D., Shimamura, A., Raaijmakers, M. H. G. P., Donadieu, J., Newburger, P. E., Touw, I. P. & Aalbers, A. M., 10 Feb 2026, In: Blood Advances. 10, 3, p. 627-641 15 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    19 Downloads (Pure)
  • Managing non-SCID T cell lymphopenia after TREC-based newborn screening

    Duintjer, A. J., Bredius, R. G. M., Van Den Berg, J. M., Van de Corput, L., Dik, W. A., Van Gijn, M. E., Henriet, S. S., Kemper, E. A., Kuijpers, T. W., Legger, G. E., Van Montfrans, J. M., Schölvinck, L. H., Vermont, C. L., Voorhoeve, E., Weijman, G., Van Well, G. T. J., Zonneveld-Huijssoon, E., Van Der Burg, M. & Blom, M., 2 Mar 2026, In: Journal of human immunity. 2, 2, e20250205.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    3 Downloads (Pure)
  • Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies

    Duintjer, A. J., Blom, M., Bredius, R. G. M., Pico-Knijnenburg, I., Heuperman, A., Hodemaekers, H., Imholz, S., Dollé, M. E. T., Brandsema, R. B., van de Corput, L., Henriet, S. S., Kuijpers, T. W., van Montfrans, J. M., Vermont, C. L., van Well, G. T. J., Zonneveld-Huijssoon, E., Voorhoeve, E., van Gijn, M. E. & van der Burg, M., 7 Sept 2026, In: Journal of human immunity. 2, 5, e20260031.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    2 Downloads (Pure)