- To optimize early diagnosis, improve patient care and implement novel treatment strategies for patients with auto-immune, auto-inflammatory and immunodeficiency diseases (immunodysregulation disorders).
- To improve personalized medicine by identifying a) disease-causing genetic defects and b) defective pathways resulting in specific disease (manifestations) in patients, leading to a "from bedside to bench and back to bedside approach".
The AC for Rare Immunological Disease (RIDC) holds strong collaborations between the participating laboratories and clinical departments to ensure fundamental, translational and clinical research projects. Members of the various disciplines are involved in the AC's research projects. Results of fundamental research can be implemented in clinical care and in clinical studies.
The biotechnology of our laboratory partners is used to evaluate effects of novel treatment strategies.
Research activities in rare primary immunodeficiency diseases, autoinflammatory disorders and systemic autoimmune diseases (amongst others Morbus Sjögren, Behçet’s disease, systemic sclerosis, systemic lupus erythematodes, uveitis, vasculitis, IgG4-related disease and hemofagocytic lymfohistiocytosis (HLH) ) include the following projects:
Primary imunodeficiency disease (PID):
The role of V(D)J recombination in common variable immunodeficiency disorder (CVID) development (fundamental) (ZonMW Veni, 2015-2018)
Genetics first in primary imunodeficiency disease (clinical) (ZonMw Doelmatigheid, 2016-2020)
Genes and Immunity in SCID (translational)
Mood disorders in primary immunodeficiencies (translational/clinical) (Horizon 2020 Moodstratification, 2018-2022)
Clinical trial in Activated PI3K delta syndrome (APDS) with leniolisib (supported by Novartis, 2016-2020)
Endocrine dysfunction in primary immunodeficiencies (translational/clinical) (non-restricted educational grant by Novartis, 2016-2020)
Skin disorders in primary immunodeficiencies (translational/clinical) (non-restricted educational grant by Micreos HUman Health B.V., 2017-2020)
The different roads to immune deficiency; genetic and inflammatory syndromes (non-restriced educational grant by Baxalta/Shire 2016-2019)
Personalized Risk assessment in febrile illness to Optimize Real-life Management across the European Union (PERFORM, Horizon 2020) fundamental, translational and clinical;2015-2020)
Immunome project consortium for AutoInflammatory Disorders (ImmunAID; Horizon 2020, 2018-2012)
The role of the microbiome in BD
WES in BD like diseases
TLR in BD
Clinical trials focussing on pulmonary involvement (in colaboration with Boehringer Ingelheim) and cutaneous involvement (in colaboration with Corbus and Inventiva)
Determination of biomarkers in systemic sclerosis (non-restricted educational grant by Actelion BV, 2015-2020)
Morbus Sjogren and systemic lupus erythematodes
Transaltional research project on interferon signature in Morbus Sjogren (Reumafonds project, 2017-2021)
Biobanking of patients with uveitis
Clinical trials in Granulomatosis with Polyangiitis (GPA)
IgG4 related disease(IgG4RD)
Bio -and databanking.
Clincical trial with liposomal steroïd (nanocort)
T-cell and NK cell analysis in HLH patients (Ter Meulen grant)
This AC is actively involved in the education of bachelor and master students in medicine (especially 2nd and 3rd year) and in the Master Programs Infection & Immunity, Clinical Technology and Molecular Medicine.
Members of the AC participate in training of interns and residents (Internal Medicine, Ophthalmology, Dermatology, Pulmonology, Rheumatology, Pediatrics, ENT, Neurology, fellows in Allergy/Clinical Immunology) and are responsible for training in Allergy and Clinical Immunology.
Members of the AC organize and participate in regional, national and international conferences for medical specialists to broaden the knowledge in rare immunological diseases.
Novel e-learning educational programs, i.e. minors, are developed and under development for medical students, nurses and interns/residents.
The AC facilitates international exchange programs (Bangkok (Thailand), Jakarta (Indonesia) and Paramaribo (Surinam) and tends to host 2-4 international students yearly.
Societal Relevance to Research, Education and Patient Care
The AC aims to broaden the knowledge on rare immunologic diseases among care professionals as well as the general public. Members participate in (inter)national clinical, diagnostic and therapeutic guideline development. Patient education material is developed in collaboration with (inter)national patient organizations. Video materials have been developed that are available via our website and disease specific patient information folders are available in various languages (Dutch, English, Turkish and Moroccan, based on the patient backgrounds that are under treatment at the Erasmus MC) via website and hardcopy. Interactive educational material has been developed (in collaboration with external parties) for healthcare professionals. The AC is involved in development and improvements of the curriculum for medical students and interns.
Focus is on raising awareness for immunological diseases and providing more insights in normal immune cell function and processes that lead to immunological diseases. By strong international collaborations we have implemented newborn screening for immunodeficiencies in the Netherlands. This results in early diagnosis, and subsequent treatment, resulting in prevention of severe disease manifestations, organ damage and premature death. By determining genetic defects, novel gene-targeted therapies are under current clinical exploration and/or development.
Furthermore members of the AC are involved in numerous clinical trials and investigator initiated research projects. The results of the studies are published in peer-reviewed international high-impact journals and are presented to patients and patient organizations on annual or bi-annual meetings organized by the AC for patients and patient organizations. Based on these meetings and patients' preferences novel research questions are addressed.
The AC RIDC organized in September 2018 the global conference and patience conference on Behcet's disease in Rotterdam.
The AC RIDC was involved in presentations at the EU Parlement in 2016/2017 concerning the treatment of patients with PID.
The AC RIDC organized patients meetings with patient foundations in 2016/2017/2018. The subjects include PID, SLE, Vasculitis, Mastocytosis and Behcet's disease.
The AC RIDC advises Zorginstituut concerning the use of immune-mediated inflammatory drugs.
Viability of Research, Education and Patient Care
The Academic Center strives for and succeeds in developing high standards of conduct in a field of research, innovation and education. Our center acquires and develops knowledge by conducting basic and translational research, identifying new therapies, study and compare models of care. We concentrate the resources needed for highly specialized care and serve as an anchor institution for others. We share knowledge with clinical Immunologists and other specialists on (inter)national fora, such as conferences and meetings. More than 500 papers have been published in peer reviewed high ranked papers in the last 5 years. Our collaborations resulted in a continuous flow of successful PhD graduates.
The success of many PhD students can be seen upon their presence at international conferences, where they are invited speaker and/or giving poster presentations. The continuity of the AC is secured by identifying and recruiting talents during short-term clinical rotations, medical education sessions or short-term bioinformatics/genetics and laboratory trainings. Potential talents are offered a short-term research project in order to determine their eligibility to become a PhD student. The progress of all PhD students is annually evaluated by a PhD-board.
Key and relevant publications of the last five years
- Karim F et al., N Engl J Med. 2017;376:599-600
- IJspeert et al. Blood. 2016 Jun 8. pii: blood-2016-02-701029
- Sharma et al. Nat Genet. 2013 Oct;45(10):1261
- Driessen, IJspeert et al. J Allergy Clin Immunol. 2013 May;131(5):1367-75
- Kuiper et al. Hum Mol Genet. 2014 Nov 15;23(22):6081-7.
- La Distia Nora et al. Am J Ophthalmol. 2014 Apr;157(4)
- Maria et al. Ann Rheum Dis. 2014 jun;73(6)
- Virakul et al. Invest Ophthalmol Vis Sci. 2015 Aug;56(9):5457-64.
- Meesilpavikkai K et al. J Allergy Clin Immunol 2018 142(1):328-33
- Rao VK et al. Blood 2017 Nov 23;130(21):2307-2316
PhD theses of the last five years
- 2016 S. Virakul: New insights in the Pathogenesis of Graves’Ophthalmology: potentials for targeted therapy
- 2016 L. Kamphuis: The many faces of Sarcoidosis: Novel insights into pathogenesis, 2016 L.,diagnositics and therapy
- 2014 H. IJspeert: Clinical and Immunological Diversity of Recombination defects
- 2014 J. Kuiper: Pathogenesis of birdshot chorioretinopathy
- 2014 M. Haverkamp: Primary immunodeficiencies, mycobacterial infections, and cytokines
- 2015 J. Kappen: Translational Aspects of Behçet’s Disease
- 2013 G. Driessen: Immunobiology of primary antibody deficiencies: towards a new classification
- 2013 Z. Brkic: Interferon Type 1 Driven Immune Activation in Generalized autoimmune Diseases
- 2018 R. La Distia Nora: Mycobacterium Tuberculosis-Associated Uveitis: Infection and Autoimmunity
- 2018 J.C.E.M. ten Berge: Autoimmunity in Uveitis and Other Chorioretinal Diseases
- 2017 T. Both: Beyond the dryness of Sjogren’s disease
- 2016 J. Bastiaans A novel role for coagulation proteins in the development of proliferative vitreoretinopathy
- 2015 N. Maria The Toll of too much Interferon: The systemic interferon signature in the pathogenesis of Sjögren’s syndrome
- 2018 WMC Timmermans: Immunopathogenesis of granulomas in chronoc inflammatory diseases
- 2018 J ten Berge Autoimmunity in uveitis and other chorioretinal diseases EMC
- 2015 A Osserwaarde-Norel: Cystoid macular edema in uveitis UMCU
- 2014 A Riemens: Eye involvement in haematological malignancies UMCU
- 2018 M Wentink: Immune repertoire in the picture EMC
Non-scientific publications related to the ACE
- 2018 Paul van Daele interview Algemeen Dagblad
- Leaflets International Patients Organisation of Primary Immunodeficiencies
- 2018 Paul van Daele, interview "Een Vandaag"
- 2018 Faiz Karim, interview Hart van Zuidplas
- 2018 Interview P. van der Spek & P.M. van Hagen, ICT/Magazine
- 2015-2018; 5 tal publicaties Vascuzine (website en 3 jaarlijks magazine vasaculitis stichting) https://www.vasculitis.nl/search_nl.html?query=laar
- J. Altenburg
- N.J.T. Arends
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- H.H.W. de Gier
- N. de Jong
- N.W. de Jong
- S.J. Erkeland
- P.L.A. Fraaij
- R. Gerth van Wijk
- J.M.W. Hazes
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- I.H.I.M. Hollink
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- R.W.A.M. Kuijpers
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- M. Michels
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- A.D.A. Paridaens
- S.G.M.A. Pasmans
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- J.N. Samsom
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