dr. J.M. van Montfrans

Assistant Professor - medical
dr. J.M. van Montfrans
  • Immunology patient care



Dr. Joris van Montfrans 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 primary immunodeficiencies. 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 consortium of researchers from immunology- and genetic departments, NGS based testing for diagnosis of immune deficiencies was developed, studied and implemented. He is the principal investigator for a national study efficiacy of early screening for genetic causes (ZonMW funded) of immundeficiencies. He is also the principal investigator in a study into auto-immune complications in CVID. He is secretary of the National Working Party for Immnunodeficiencies and member of the eGLILD consortium steering committee. He is an active teacher, training medical students and organizing and lecturing in EUREKA summer schools.

Side Activities

-         Secretaris WID (werkgroep immuundeficienties)

-         Voorzitter SSPID (stichting samenwerkende centra primaire immuundeficienties)

Research Output (105)

What Works When Treating Granulomatous Disease in Genetically Undefined CVID?:A Systematic Review

van Stigt Astrid C, Dik Willem A, Kamphuis Lieke S J, Smits Bas M, van Montfrans Joris M, van Hagen P Martin, Dalm Virgil A S H, IJspeert Hanna 17 dec 2020, In: Frontiers in Immunology. 11

Managing Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders:e-GLILDnet International Clinicians Survey

van de Ven Annick A J M, Alfaro Tiago M, Robinson Alexandra, Baumann Ulrich, Bergeron Anne, Burns Siobhan O, Condliffe Alison M, Fevang Børre, Gennery Andrew R, Haerynck Filomeen, Jacob Joseph, Jolles Stephen, Malphettes Marion, Meignin Véronique, Milota Tomas, van Montfrans Joris, Prasse Antje, Quinti Isabella, Renzoni Elisabetta, Stolz Daiana, Warnatz Klaus, Hurst John R 26 nov 2020, In: Frontiers in Immunology. 11 , p. 606333

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Ghosh Sujal et al. 30 jun 2020, In: Blood. 136 , p. 2638-2655 18 p.

Low IgA Associated With Oropharyngeal Microbiota Changes and Lung Disease in Primary Antibody Deficiency

Berbers Roos Marijn, Mohamed Hoesein Firdaus A.A., Ellerbroek Pauline M., van Montfrans Joris M., Dalm Virgil A.S.H., van Hagen P. Martin, Paganelli Fernanda L., Viveen Marco C., Rogers Malbert R.C., de Jong Pim A., Uh Hae Won, Willems Rob J.L., Leavis Helen L. 19 jun 2020, In: Frontiers in Immunology. 11 11 p.

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Tesch Victoria Katharina, Abolhassani Hassan, Shadur Bella, Zobel Joachim, Mareika Yuliya, Sharapova Svetlana, Karakoc-Aydiner Elif, Rivière Jacques G., Garcia-Prat Marina, Moes Nicolette, Haerynck Filomeen, Gonzales-Granado Luis I., Santos Pérez Juan Luis, Mukhina Anna, Shcherbina Anna, Aghamohammadi Asghar, Hammarström Lennart, Dogu Figen, Haskologlu Sule, İkincioğulları Aydan, Köstel Bal Sevgi, Baris Safa, Kilic Sara Sebnem, Karaca Neslihan Edeer, Kutukculer Necil, Girschick Hermann, Kolios Antonios, Keles Sevgi, Uygun Vedat, Stepensky Polina, Worth Austen, van Montfrans Joris M., Peters Anke M.J., Meyts Isabelle, Adeli Mehdi, Marzollo Antonio, Padem Nurcicek, Khojah Amer M., Chavoshzadeh Zahra, Avbelj Stefanija Magdalena, Bakhtiar Shahrzad, Florkin Benoit, Meeths Marie, Gamez Laura, Grimbacher Bodo, Seppänen Mikko R.J., Lankester Arjan, Gennery Andrew R., Seidel Markus G., mei 2020, In: Journal of Allergy and Clinical Immunology. 145 , p. 1452-1463 12 p.

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

Elsink Kim, van Montfrans Joris M., van Gijn Mariëlle E., Blom Maartje, van Hagen P. Martin, Kuijpers T. W., Frederix Geert W.J. apr 2020, In: Clinical Immunology. 213

Targeted Proteomics Reveals Inflammatory Pathways that Classify Immune Dysregulation in Common Variable Immunodeficiency

Berbers Roos-Marijn, Drylewicz Julia, Ellerbroek Pauline M, van Montfrans Joris M, Dalm Virgil A S H, van Hagen P Martin, Keller Baerbel, Warnatz Klaus, van de Ven Annick, van Laar Jaap M, Nierkens Stefan, Leavis Helen L 2020, In: Journal of Clinical Immunology. 41 , p. 362-373 12 p.

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.

All research output

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