PRINCIPAL
INVESTIGATORS
Principal Investigator
Erika van Nieuwenhove
Background
I am a pediatrician specialized in immunology and rheumatology at the Wilhelmina Children’s Hospital (UMC Utrecht) with a long-term goal to improve care for rare pediatric inflammatory diseases by uncovering the mechanisms driving disease and developing targeted therapies.
After graduating summa cum laude in Medicine at KU Leuven, I trained in pediatrics and pursued fellowships in Leuven (Belgium), Hôpital Necker–Enfants Malades (France), and UMC Utrecht (The Netherlands). My PhD at the VIB–KU Leuven, under professor Adrian Liston and professor Carine Wouters, focused on gene discovery in severe early-onset immunological diseases, leading to identification of novel causal genes and pathways for multiple inherited conditions. After completing my subspecialist training, I joined the Division of Pediatric Immunology and Rheumatology in Utrecht, where I combine patient care with translational research on rare immune-mediated diseases.
Research
My research focuses on both monogenic and complex or undifferentiated systemic autoinflammatory diseases (uSAID)—children with recurrent inflammation but no known genetic diagnosis. With support from a ZonMw Clinical Fellow grant, I am developing a translational research line that integrates next-generation sequencing, functional immune assays, and multi-omics profiling to identify new (modifier) genes and pathways driving inflammation.
My work also ensures more direct contact between the clinical queries and our research on autoinflammatory disease within the Center for Translational Immunology (CTI), enabling mechanistic studies and improved genetic variant interpretation. Furthermore, in collaboration with Sabine Fuchs, we pursue a novel gene editing approach as a curative approach for immunological disease (MKD and DADA2). Within the framework of the EP PerMed consortium, and through collaboration with professor Jeffrey Beekman, I am focused on developing patient-derived organoid models to study how epithelial cells—our body’s barrier cells—interact with immune cells in autoinflammatory disease. These models allow us to recreate key aspects of inflammation in the lab and dissect how disturbances in epithelial or immune cell function can trigger or sustain chronic inflammation. Through active international collaborations and patient partnerships, I aim to translate molecular discoveries into tangible advances in precision care.
Publications
Neumann J.*, Van Nieuwenhove E.*, Terry L.E.*, Staels F., Knebel T.R., Welkenhuyzen K., Ahmadzadeh K., Baker M.R., Gerbaux M., Willemsen M., Barber J.S., Serysheva I.I., De Waele L., Vermeulen F., Schlenner S., Meyts I., Yule D.I., Bultynck G., Schrijvers R., Humblet-Baron S., Liston A. (2023) Disrupted Ca2+ homeostasis and immunodeficiency in patients with functional IP3 receptor subtype 3 defects. Cell mol Immunol 20(1):11-25.
Spaan A.N., Neehus A.L., Laplantine E., Staels F., Ogishi M., Seeleuthner Y., Rapaport F., Lacey K.A., Van Nieuwenhove E., Chrabieh M., Hum D., Migaud M., Izmiryan A., Lorenzo L., Kochetkov T., Heesterbeek D.A.C., Bardoel B.W., DuMont A.L., Dobbs K., Chardonnet S., Heissel S., Baslan T., Zhang P., Yang R., Bogunovic D., Wunderink H.F., Haas P.A., Molina H., Van Buggenhout G., Lyonnet S., Notarangelo L.D., Seppänen M.R.J., Weil R., Seminario G., Gomez-Tello H., Wouters C., Mesdaghi M., Shahrooei M., Bossuyt X., Sag E., Topaloglu R., Ozen S., Leavis H.L., van Eijk M.M.J., Bezrodnik L., Blancas Galicia L., Hovnanian A., Nassif A., Bader-Meunier B., Neven B., Meyts I., Schrijvers R., Puel A., Bustamante J., Aksentijevich I., Kastner D.L., Torres V.J., Humblet-Baron S., Liston A., Abel L., Boisson B., Casanova J.L. (2022) Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin. Science.376(6599).
Van Nieuwenhove E.*, Barber J.S.*, Neumann J., Smeets E., Willemsen M., Pasciuto E., Prezzemolo T., Lagou V., Seldeslachts L., Malengier-Devlies B., Metzemaekers M., Haßdenteufel S., Kerstens A., van der Kant R., Rousseau F., Schymkowitz J., Di Marino D., Lang S., Zimmermann R., Schlenner S., Munck S., Proost P., Matthys P., Devalck C., Boeckx N., Claessens F., Wouters C.#, Humblet-Baron S.#, Meyts I.#, and Liston A.# (2020) Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia. J Allergy Clin Immunol. 146(5):1180-1193.
Van Nieuwenhove E.*, Lagou V.*, Van Eyck L., Dooley J., Bodenhofer U., Roca C., Vandebergh M., Goris A., Humblet-Baron S., Wouters C., Liston A. (2019) “Machine learning identifies the immunological signature of Juvenile Idiopathic Arthritis.” Ann Rheum Dis.78(5):617-628.
Van Nieuwenhove E., Garcia-Perez J.E., Helsen C., Rodriguez P.D., van Schouwenburg P.A., Dooley J., Schlenner S., van der Burg M., Verhoeyen E., Gijsbers R., Frietze S., Schjerven H., Meyts I., Claessens F., Humblet-Baron S.#, Wouters C.#, Liston A.# (2018) “A kindred with mutant IKAROS and autoimmunity.” J Allergy Clin Immunol. 142(2):699–702.