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1. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Tim Niehues, Catherine Waruiru, Conleth Feighery, Uwe Schauer, Virginie Courteille, Kai Lehmberg, Ingo Müller, I. Esteves, Henner Morbach, Michael Borte, Patrick Hundsdoerfer, Klaus Schwarz, Ewelina Gowin, Alessandro Aiuti, Andreas Holbro, Federica Barzaghi, João Farela Neves, Dagmar Graf, Hannah Tamary, Veneta Milenova, Benedikt Boetticher, Eleonora Gambineri, Vera Goda, Alia Eldash, Jan-Christian Wasmuth, Fabio Candotti, Svetlana O. Sharapova, Markus Metzler, Juergen Brunner, Anna Hilfanova, Brindusa Ruxandra Capilna, Pere Soler-Palacín, Arnau Antolí, Horst von Bernuth, Vassilios Lougaris, Maria Carrabba, Bernd H. Belohradsky, Julian Thalhammer, Nathalie de Vergnes, Peter Olbrich, Peter Kopač, Leif G. Hanitsch, Alexandra Nieters, Filomeen Haerynck, Juliana Gabzdilova, Sezin Aydemir, Rabab El Hawary, Patrick F.K. Yong, Maria Giovanna Danieli, Alberto Tommasini, Sandra Steinmann, Ulrich Baumann, Figen Dogu, Elisabeth Förster-Waldl, Carolina Marasco, Donato Amodio, Lorenzo Lodi, Xavier Solanich, Caterina Cancrini, Brigita Sitkauskiene, Torsten Witte, Clementina Vanessa, Nima Rezaei, Jean-Christophe Goffard, Kirsten Wittke, Emmanouil Liatsis, Helen Baxendale, Susana L. Silva, Bodo Grimbacher, Henrike Ritterbusch, Evangelia Farmaki, Safa Meshaal, Sujal Ghosh, Larysa Kostyuchenko, David Edgar, Simone Cesaro, R Zeuner, Nerea Salmón Rodríguez, Isabella Quinti, Stephan Ehl, Pauline Brosselin, Joerg C. Henes, Pilar Llobet Agulló, Rosa Maria Dellepiane, Andrea Meinhardt, Marina Kojić, Georgios Sogkas, Stephan Borte, Catharina Schuetz, Suheyla Ocak, Karin Marschall, Lukas M. Gasteiger, Stefan Raffac, Sofia Tantou, Sadia Noorani, Matthaios Speletas, Philippe Randrianomenjanahary, Ursula Holzer, Ayca Kiykim, Johannes G. Liese, Angelo Vacca, Gisela Fecker, Ekrem Unal, Koen J. van Aerde, Alba Parra-Martínez, Kaan Boztug, Sophie Stiehler, Sybille Landwehr-Kenzel, Claudio Pignata, Jennifer Neubert, Janine Reichenbach, Shahnaz Parvin, Sarah Goddard, Andrea Schroll, Dirk Holzinger, Asghar Aghamohammadi, Hassan Abolhassani, Johannes Trück, Estela Paz-Artal, Shereen M. Reda, Anna Shcherbina, Maria Raptaki, Jaroslava Orosova, Beata Wolska-Kuśnierz, Tessa Kerre, Gerrit Ahrenstorf, Ben Zion Garty, Dirk Foell, Benjamin Becker, Ulrike F. Demel, Androniki Kapousouzi, Abraham Rutgers, Klaus Warnatz, Gemma Rocamora Blanch, Stephan Rusch, Luis M. Allende, Dalia Abd Elaziz, Safa Baris, Jorisvan Montfrans, Dominik T. Schneider, Raphael Scheible, Juana Gil-Herrera, Gerhard Kindle, Annarosa Soresina, Giovanna Fabio, Uwe Wintergerst, Emilia Faria, Maria Fasshauer, Silvia Ricci, Aisha Elmarsafy, Barbara Pietrucha, Carsten Speckmann, Nizar Mahlaoui, Ulrich Heininger, Isabelle Meyts, Matthew Buckland, Efimia Papadopoulou-Alataki, Robin Kobbe, A Herwadkar, Sebastian F. N. Bode, Ali Sobh, László Maródi, Baldassarre Martire, Chiara Azzari, Maximilian Heeg, Katja Masjosthusmann, Michael H. Albert, Matteo Chinello, Juan Luis Santos-Pérez, Aarnoud Huissoon, Tanya I. Coulter, Hendrik Schulze-Koops, Norbert Graf, Radwa Alkady, Jolanta Bernatoniene, Seraina Prader, Alenka Gagro, Joachim Roesler, Taco W. Kuijpers, Ewa Więsik-Szewczyk, Maria Elena Maccari, Conrad Ferdinand Lippert, Miriam González-Amores, Johannes Dirks, Daniel E Pleguezuelo, Christof M. Kramm, Anders Fasth, Volker Schuster, Olov Ekwall, Nikolaus Rieber, Javier Carbone, Petra Kaiser-Labusch, Diana Ernst, Lucia Augusta Baselli, Luis Ignacio Gonzalez-Granado, Maria Kanariou, Stefanie S. V. Henriet, Sigune Goldacker, Kerstin Felgentreff, Oana Joean, Fine Roosens, Fabian Hauck, Eva C. Schwaneck, Milos Jesenak, Manfred Hoenig, Lenka Kapustova, Christoph Boesecke, Alain Fischer, Sara Pereira da Silva, Julia Körholz, Ansgar Schulz, Carolynne Schwarze-Zander, Mikko Seppänen, Nermeen Galal, Nora Naumann-Bartsch, Tomaz Garcez, Peter Ciznar, Klara M. Posfay-Barbe, Zelimir Pavle Eric, Reinhold E. Schmidt, Hermann J. Girschick, Sabine Heine, Anika-Kerstin Biegner, Annick A. J. M. van de Ven, Stefan Schreiber, J. Merlijn van den Berg, Nurit Assia Batzir, Alexandra Jablonka, Kim Stol, Gregor Dückers, Antonios G.A. Kolios, Ioannis Kakkas, Christian Klemann, Marina N. Guseva, Sofia Grigoriadou, Elif Karakoc-Aydiner, Antonio Marzollo, Peter D. Arkwright, Urs C. Steiner, Sara Sebnem Kilic, Romina Dieli-Crimi, Gergely Kriván, Monika Sparber-Sauer, Marco Cazzaniga, Fulvio Porta, Paraskevi Maggina, Tomas Milota, Robbert G. M. Bredius, Martine Pergent, Klaus Tenbrock, Jana Pachlopnik Schmid, Florentia Dimitriou, Cathal Laurence Steele, Helen Bourne, Anna Bobcakova, Gerd Horneff, Judith Potjewijd, Marc Schmalzing, Tobias Ankermann, Paul Ryan, Oksana Boyarchuk, Necil Kutukculer, Carl Friedrich Classen, Zita Chovancová, Moira Thomas, Cinzia Milito, Michaela Bitzenhofer-Grüber, Faranaz Atschekzei, Eva Hlaváčková, Viviana Moschese, Julie Smet, Hans-Hartmut Peter, Carla Teixeira, Sabine M El-Helou, Suzanne de Kruijf Bazen, Helmut Wittkowski, Donate Jakoby, Marina Garcia-Prat, Esther de Vries, Richard Herriot, Sven Kracker, Alessandro Plebani, Lisa Göschl, Laura Hora Marques, Anna Sediva, Jiri Litzman, Mark M. Gompels, Renate Krüger, Şefika İlknur Kökçü Karadağ, Nadine Binder, Anna Szaflarska, Peter Jandus, Lisa Ibberson, Johann Greil, Ulf Schulze-Sturm, Mehtap Sirin, Aydan Ikinciogullari, Edyta Heropolitańska-Pliszka, Michael E. Weiss, Alla Skapenko, Lukas Wisgrill, Hana Alachkar, Uta Behrends, Silvia Sánchez-Ramón, Maria N. Hatzistilianou, Otilia Petrovicova, Darko Richter, Zoreh Nademi, Jürgen K. Rockstroh, Sohilla Lotfy, Markus G. Seidel, Timothy Ronan Leahy, Audra Blažienė, Translational Immunology Groningen (TRIGR), Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Inflammatory diseases, ARD - Amsterdam Reproduction and Development, University of Zurich, Ehl, Stephan, Thalhammer, J., Kindle, G., Nieters, A., Rusch, S., Seppanen, M. R. J., Fischer, A., Grimbacher, B., Edgar, D., Buckland, M., Mahlaoui, N., Ehl, S., Boztug, K., Brunner, J., Demel, U. F., Forster-Waldl, E., Gasteiger, L. M., Goschl, L., Kojic, M., Schroll, A., Seidel, M. G., Wintergerst, U., Wisgrill, L., Sharapova, S. O., Goffard, J. -C., Kerre, T., Meyts, I., Roosens, F., Smet, J., Haerynck, F., Eric, Z. P., Milenova, V., Gagro, A., Richter, D., Chovancova, Z., Hlavackova, E., Litzman, J., Milota, T., Sediva, A., Elaziz, D. A., Alkady, R. S., El Sayed El Hawary, R., Eldash, A. S., Galal, N., Lotfy, S., Meshaal, S. S., Reda, S. M., Sobh, A., Elmarsafy, A., Brosselin, P., Courteille, V., De Vergnes, N., Kracker, S., Pergent, M., Randrianomenjanahary, P., Ahrenstorf, G., Albert, M. H., Ankermann, T., Atschekzei, F., Baumann, U., Becker, B. C., Behrends, U., Belohradsky, B. H., Biegner, A. -K., Binder, N., Bode, S. F. N., Boesecke, C., Boetticher, B., Borte, M., Borte, S., Classen, C. F., Dirks, J., Duckers, G., El-Helou, S., Ernst, D., Fasshauer, M., Fecker, G., Felgentreff, K., Foell, D., Ghosh, S., Girschick, H. J., Goldacker, S., Graf, N., Graf, D., Greil, J., Hanitsch, L. G., Hauck, F., Heeg, M., Heine, S. I., Henes, J. C., Hoenig, M., Holzer, U., Holzinger, D., Horneff, G., Hundsdoerfer, P., Jablonka, A., Jakoby, D., Joean, O., Kaiser-Labusch, P., Klemann, C., Kobbe, R., Korholz, J., Kramm, C. M., Kruger, R., Landwehr-Kenzel, S., Lehmberg, K., Liese, J. G., Lippert, C. F., Maccari, M. E., Masjosthusmann, K., Meinhardt, A., Metzler, M., Morbach, H., Muller, I., Naumann-Bartsch, N., Neubert, J., Niehues, T., Peter, H. -H., Rieber, N., Ritterbusch, H., Rockstroh, J. K., Roesler, J., Schauer, U., Scheible, R., Schmalzing, M., Schmidt, R. E., Schneider, D. T., Schreiber, S., Schuetz, C., Schulz, A., Schulze-Koops, H., Schulze-Sturm, U., Schuster, V., Schwaneck, E. C., Schwarz, K., Schwarze-Zander, C., Sirin, M., Skapenko, A., Sogkas, G., Sparber-Sauer, M., Speckmann, C., Steinmann, S., Stiehler, S., Tenbrock, K., von Bernuth, H., Warnatz, K., Wasmuth, J. -C., Weiss, M., Witte, T., Wittke, K., Wittkowski, H., Zeuner, R. A., Farmaki, E., Hatzistilianou, M. N., Kakkas, I., Kanariou, M. G., Kapousouzi, A., Liatsis, E., Maggina, P., Papadopoulou-Alataki, E., Raptaki, M., Speletas, M., Tantou, S., Goda, V., Krivan, G., Marodi, L., Abolhassani, H., Aghamohammadi, A., Rezaei, N., Feighery, C., Leahy, T. R., Ryan, P., Batzir, N. A., Garty, B. Z., Tamary, H., Aiuti, A., Amodio, D., Azzari, C., Barzaghi, F., Baselli, L. A., Cancrini, C., Carrabba, M., Cazzaniga, M., Cesaro, S., Chinello, M., Danieli, M. G., Dellepiane, R. M., Fabio, G., Gambineri, E., Lodi, L., Lougaris, V., Marasco, C., Martire, B., Marzollo, A., Milito, C., Moschese, V., Pignata, C., Plebani, A., Porta, F., Quinti, I., Ricci, S., Soresina, A., Tommasini, A., Vacca, A., Vanessa, C., Blaziene, A., Sitkauskiene, B., Gowin, E., Heropolitanska-Pliszka, E., Pietrucha, B., Szaflarska, A., Wiesik-Szewczyk, E., Wolska-Kusnierz, B., Esteves, I., Faria, E., Marques, L. H., Neves, J. F., Silva, S. L., Teixeira, C., Pereira da Silva, S., Capilna, B. R., Guseva, M. N., Shcherbina, A., Bobcakova, A., Ciznar, P., Gabzdilova, J., Jesenak, M., Kapustova, L., Orosova, J., Petrovicova, O., Raffac, S., Kopac, P., Allende, L. M., Antoli, A., Blanch, G. R., Carbone, J., Dieli-Crimi, R., Garcia-Prat, M., Gil-Herrera, J., Gonzalez-Granado, L. I., Agullo, P. L., Olbrich, P., Parra-Martinez, A., Paz-Artal, E., Pleguezuelo, D. E., Rodriguez, N. S., Sanchez-Ramon, S., Santos-Perez, J. L., Solanich, X., Soler-Palacin, P., Gonzalez-Amores, M., Ekwall, O., Fasth, A., Bitzenhofer-Gruber, M., Candotti, F., Dimitriou, F., Heininger, U., Holbro, A., Jandus, P., Kolios, A. G. A., Marschall, K., Schmid, J. P., Posfay-Barbe, K. M., Prader, S., Reichenbach, J., Steiner, U. C., Truck, J., Bredius, R. G., de Kruijf- Bazen, S., de Vries, E., Henriet, S. S. V., Kuijpers, T. W., Potjewijd, J., Rutgers, A., Stol, K., van Aerde, K. J., Van den Berg, J. M., van de Ven, A. A. J. M., Montfrans, J., Aydemir, S., Baris, S., Dogu, F., Ikinciogullari, A., Karakoc-Aydiner, E., Kilic, S. S., Kiykim, A., Kokcu Karadag, S. I., Kutukculer, N., Ocak, S., Unal, E., Boyarchuk, O., Hilfanova, A., Kostyuchenko, L. V., Alachkar, H., Arkwright, P. D., Baxendale, H. E., Bernatoniene, J., Coulter, T. I., Garcez, T., Goddard, S., Gompels, M. M., Grigoriadou, S., Herriot, R., Herwadkar, A., Huissoon, A., Ibberson, L., Nademi, Z., Noorani, S., Parvin, S., Steele, C. L., Thomas, M., Waruiru, C., Yong, P. F. K., and Bourne, H.

Subjects
0301 basic medicine, Male, Pediatrics, syndromic, Sex Factor, Disease, registry, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Primary Immunodeficiency Disease, inborn error of immunity, Immunology and Allergy, warning signs, Age Factor, Registries, Family history, presenting symptom, Child, Primary immunodeficiency, Granuloma, autoimmune, immune dysregulation, inflammatory, Adult, Autoimmune Diseases, Female, Humans, Infections, Lymphoproliferative Disorders, Middle Aged, Primary Immunodeficiency Diseases, Sex Factors, Age Factors, 10177 Dermatology Clinic, Infections/epidemiology, 3. Good health, Settore MED/02, Warning signs, Lymphoproliferative Disorder, 2723 Immunology and Allergy, Infection, Human, medicine.medical_specialty, Immunology, 610 Medicine & health, Malignancy, primary immunodeficiency, Autoimmune Disease, 03 medical and health sciences, Immunity, Autoimmune Diseases/epidemiology, medicine, 2403 Immunology, business.industry, warning sign, Common variable immunodeficiency, Granuloma/epidemiology, Immune dysregulation, medicine.disease, Primary Immunodeficiency Diseases/epidemiology, 030104 developmental biology, Lymphoproliferative Disorders/epidemiology, Cohort Studie, business, 030215 immunology
Abstract

BACKGROUND: Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations.OBJECTIVE: We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts.METHODS: We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered.RESULTS: Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years.CONCLUSIONS: An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.

Published
2021

2. Breathomics to diagnose systemic sclerosis using thermal desorption and comprehensive two-dimensional gas chromatography high-resolution time-of-flight mass spectrometry

Author

Béatrice Andre, Judith Potjewijd, Laurie Giltay, Pierre-Hugues Stefanuto, Monique Henket, Michel Malaise, Jean-François Focant, Françoise Guissard, Florence Schleich, Julien Guiot, Renaud Louis, Delphine Zanella, MUMC+: MA Nefrologie (9), and RS: FHML non-thematic output

Subjects
medicine.medical_specialty, High-resolution mass spectrometry, High resolution, 02 engineering and technology, METABOLOMICS, 01 natural sciences, Biochemistry, Gastroenterology, Gas Chromatography-Mass Spectrometry, Analytical Chemistry, Metabolomics, Disease severity, Internal medicine, medicine, Humans, Volatile organic compounds, Scleroderma, Systemic, Terpenes, business.industry, 010401 analytical chemistry, Disease progression, Healthy subjects, Interstitial lung disease, Exhaled breath, 021001 nanoscience & nanotechnology, medicine.disease, Hydrocarbons, 0104 chemical sciences, Breath Tests, Breath gas analysis, Systemic sclerosis, Time-of-flight mass spectrometry, 0210 nano-technology, business, Biomarkers, Comprehensive two-dimensional gas chromatography, LUNG
Abstract

Systemic sclerosis is a rare autoimmune disease associated with rapidly evolving interstitial lung disease, responsible for the disease severity and mortality. Specific biomarkers enabling the early diagnosis and prognosis associated with the disease progression are highly needed. Volatile organic compounds in exhaled breath are widely available and non-invasive and have the potential to reflect metabolic processes occurring within the body. Comprehensive two-dimensional gas chromatography coupled to high-resolution mass spectrometry was used to investigate the potential of exhaled breath to diagnose systemic sclerosis. The exhaled breath of 32 patients and 30 healthy subjects was analyzed. The high resolving power of this approach enabled the detection of 356 compounds in the breath of systemic sclerosis patients, which was characterized by an increase of mainly terpenoids and hydrocarbons. In addition, the use of 4 complementary statistical approaches (two-tailed equal variance t-test, fold change, partial least squares discriminant analysis, and random forest) resulted in the identification of 16 compounds that can be used to discriminate systemic sclerosis patients from healthy subjects. Receiver operating curves were generated that provided an accuracy of 90%, a sensitivity of 92%, and a specificity of 89%. The chemical identification of eight compounds predictive of systemic sclerosis was validated using commercially available standards. The analytical variations together with the volatile composition of room air were carefully monitored during the timeframe of the study to ensure the robustness of the technique. This study represents the first reported evaluation of exhaled breath analysis for systemic sclerosis diagnosis and provides surrogate markers for such disease.

Published
2021

3. Urinary Soluble CD163 and Disease Activity in Biopsy-Proven ANCA-Associated Glomerulonephritis

Author

Joop P, Aendekerk, Sjoerd A M E G, Timmermans, Matthias H, Busch, Judith, Potjewijd, Peter, Heeringa, Jan G M C, Damoiseaux, Chris P, Reutelingsperger, Pieter, van Paassen, S, Gaertner, Interne Geneeskunde, RS: Carim - B02 Vascular aspects thrombosis and Haemostasis, MUMC+: MA Med Staf Artsass Interne Geneeskunde (9), MUMC+: MA Nefrologie (9), MUMC+: DA CDL Algemeen (9), Biochemie, MUMC+: MA Klinische Immunologie (9), Translational Immunology Groningen (TRIGR), and Groningen Kidney Center (GKC)

Subjects
Male, medicine.medical_specialty, Epidemiology, Urinary system, Biopsy, kidney biopsy, 030232 urology & nephrology, Antigens, Differentiation, Myelomonocytic, Renal function, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis, Receptors, Cell Surface, Urinalysis, Critical Care and Intensive Care Medicine, Gastroenterology, 03 medical and health sciences, kidney pathology, 0302 clinical medicine, INFLAMMATION, Antigens, CD, Predictive Value of Tests, Internal medicine, medicine, Humans, VASCULITIS, cardiovascular diseases, Registries, Fibrinoid necrosis, 030304 developmental biology, 0303 health sciences, Transplantation, Kidney, medicine.diagnostic_test, business.industry, ANCA, Acute kidney injury, Glomerulonephritis, Original Articles, medicine.disease, macrophages, medicine.anatomical_structure, Nephrology, RENAL SURVIVAL, Female, business, Vasculitis, Biomarkers, glomerulonephritis
Abstract

BACKGROUND AND OBJECTIVES: ANCA-associated GN is a common cause of rapidly progressive GN, with high relapse rates. The early recognition of an ANCA-associated GN relapse is of importance to prevent loss of kidney function. Urinary soluble CD163 has been identified as a promising marker of active ANCA-associated GN. Previous studies, however, are limited by the lack of histologic data. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We analyzed urinary soluble CD163 in 95 patients with ANCA-associated vasculitis who underwent a kidney biopsy. In total, 125 kidney tissue sections (first kidney biopsy, n=67; repeated biopsy, n=58) with concurrent 24-hour urine samples were studied. Correlation analyses comparing urinary soluble CD163 levels and morphologic features of ANCA-associated GN were performed using Spearman rank correlation analysis. The diagnostic performance of biomarkers to detect relapsing ANCA-associated GN was evaluated using receiver operating characteristics curve analysis. RESULTS: High levels of urinary soluble CD163 were found in 96 (87%) of 110 biopsies with active ANCA-associated GN compared with one (7%) of 15 biopsies without active ANCA-associated GN and one (6%) of 17 healthy controls. Urinary soluble CD163 correlated with fibrinoid necrosis (Rho=0.48, P

Published
2020

4. Neutrophils and Contact Activation of Coagulation as Potential Drivers of COVID-19

Author

Borefore Jallah, Mayken Visser, Marcel C. G. van de Poll, Astrid M. L. Oude Lashof, Joram Huckriede, Matthias Busch, Sjoerd A.M.E.G. Timmermans, Jan Damoiseaux, Gerry A. F. Nicolaes, Bas C. T. van Bussel, Renee Ysermans, Paul H. Breedveld, Henri M. H. Spronk, Magdolna Nagy, Pieter van Paassen, Hugo ten Cate, Iwan C. C. van der Horst, Joop P. Aendekerk, Ruud Theunissen, Chris P. M. Reutelingsperger, Judith Potjewijd, Femke de Vries, Interne Geneeskunde, RS: Carim - B02 Vascular aspects thrombosis and Haemostasis, MUMC+: MA Med Staf Artsass Interne Geneeskunde (9), Biochemie, RS: Carim - B04 Clinical thrombosis and Haemostasis, RS: Carim - B01 Blood proteins & engineering, MUMC+: MA Nefrologie (9), Med Microbiol, Infect Dis & Infect Prev, MUMC+: DA Medische Microbiologie en Infectieziekten (5), RS: CAPHRI - R4 - Health Inequities and Societal Participation, Surgery, MUMC+: CAKZ Medische afdeling SEH (9), MUMC+: MA Medische Staf IC (9), MUMC+: MA Heelkunde (9), Intensive Care, RS: NUTRIM - R2 - Liver and digestive health, RS: Carim - V04 Surgical intervention, MUMC+: MA Intensive Care (3), MUMC+: DA CDL Algemeen (9), Faculteit FHML Centraal, MUMC+: HVC Trombosezorg (8), MUMC+: MA Alg Interne Geneeskunde (9), MUMC+: HVC Pieken Trombose (9), and MUMC+: MA Klinische Immunologie (9)

Subjects
Male, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), Neutrophils, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Pneumonia, Viral, Extracellular Traps, Betacoronavirus, Contact activation, Physiology (medical), Correspondence, Research Letter, Coagulation (water treatment), Medicine, Humans, Thrombophilia, Blood Coagulation, Complement Activation, Pandemics, Aged, Aged, 80 and over, business.industry, SARS-CoV-2, COVID-19, Thrombosis, IN-VITRO, Middle Aged, Immunology, Host-Pathogen Interactions, Female, Cardiology and Cardiovascular Medicine, business, Coronavirus Infections
Published
2020

5. Evidence and consensus-based recommendations for non-pharmacological treatment of fatigue, hand function loss, Raynaud's phenomenon and digital ulcers in patients with systemic sclerosis

Author

Frank H J van den Hoogen, Judith Potjewijd, Madelon C. Vonk, Julia Spierings, J. Bart Staal, Ton Satink, Marisca R Schriemer, J.K. Stöcker, Lian de Pundert, Cornelia H. M. van den Ende, Maria W.G. Nijhuis-van der Sanden, Anne A. Schouffoer, and RS: FHML non-thematic output

Subjects
medicine.medical_specialty, RP, Consensus, IMPACT, Psychological intervention, MEDLINE, law.invention, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Rheumatology, Randomized controlled trial, Multidisciplinary approach, law, SCLERODERMA, Nominal group technique, Skin Ulcer, medicine, LUPUS-ERYTHEMATOSUS, MANAGEMENT, Humans, Pharmacology (medical), Fatigue, Ulcer, STANDARDIZED OPERATING PROCEDURES, Scleroderma, Systemic, business.industry, hand function loss, Raynaud Disease, Evidence-based medicine, CARE, Systematic review, GUIDELINE, Physical therapy, digital ulcers, Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5], business, SSc, Patient education, INTERVENTIONS
Abstract

Objective SSc is a complex CTD affecting mental and physical health. Fatigue, hand function loss, and RP are the most prevalent disease-specific symptoms of systemic sclerosis. This study aimed to develop consensus and evidence-based recommendations for non-pharmacological treatment of these symptoms. Methods A multidisciplinary task force was installed comprising 20 Dutch experts. After agreeing on the method for formulating the recommendations, clinically relevant questions about patient education and treatments were inventoried. During a face-to-face task force meeting, draft recommendations were generated through a systematically structured discussion, following the nominal group technique. To support the recommendations, an extensive literature search was conducted in MEDLINE and six other databases until September 2020, and 20 key systematic reviews, randomized controlled trials, and published recommendations were selected. Moreover, 13 Dutch medical specialists were consulted on non-pharmacological advice regarding RP and digital ulcers. For each recommendation, the level of evidence and the level of agreement was determined. Results Forty-one evidence and consensus-based recommendations were developed, and 34, concerning treatments and patient education of fatigue, hand function loss, and RP/digital ulcers-related problems, were approved by the task force. Conclusions These 34 recommendations provide guidance on non-pharmacological treatment of three of the most frequently described symptoms in patients with systemic sclerosis. The proposed recommendations can guide referrals to health professionals, inform the content of non-pharmacological interventions, and can be used in the development of national and international postgraduate educational offerings.

Published
2022

6. Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS

Author

Mihai G. Netea, David B. Beck, A. Elizabeth Hak, Huub P.J. Willems, Pieter van Paassen, Caspar I van der Made, Marielle E. van Gijn, Frank L. van de Veerdonk, Arjan J. Kwakernaak, Lars T. van der Veken, Marloes W Heijstek, Annemiek Hoogstins, Alexander Hoischen, Ruud G. L. de Sévaux, Helen L. Leavis, Paul L A van Daele, Abraham Rutgers, Judith Potjewijd, Annet Simons, Translational Immunology Groningen (TRIGR), Immunology, MUMC+: MA Nefrologie (9), Interne Geneeskunde, and RS: Carim - B02 Vascular aspects thrombosis and Haemostasis

Subjects
Adult, Male, 0301 basic medicine, medicine.medical_specialty, Myeloid, somatic variants, Interstitial nephritis, Immunology, Perforation (oil well), lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Ubiquitin-Activating Enzymes, MOSAICISM, 03 medical and health sciences, chemistry.chemical_compound, Cancer development and immune defence Radboud Institute for Health Sciences [Radboudumc 2], 0302 clinical medicine, Tocilizumab, All institutes and research themes of the Radboud University Medical Center, Internal medicine, medicine, Humans, VEXAS, Immunology and Allergy, Age of Onset, Aged, Netherlands, Retrospective Studies, UBA1, 030203 arthritis & rheumatology, IMMUNODEFICIENCY, Cytopenia, IDENTIFICATION, business.industry, Hereditary Autoinflammatory Diseases, Skin Diseases, Genetic, Middle Aged, autoinflammation, medicine.disease, Transplantation, 030104 developmental biology, medicine.anatomical_structure, chemistry, Myelodysplastic Syndromes, Mutation, Differential diagnosis, Renal disorders Radboud Institute for Health Sciences [Radboudumc 11], business, Vasculitis
Abstract

Background: A novel autoinflammatory syndrome was recently described in male patients who harbored somatic mutations in the X-chromosomal UBA1 gene. These patients were characterized by adult-onset, treatment-refractory inflammation with fever, cytopenia, dysplastic bone marrow, vacuoles in myeloid and erythroid progenitor cells, cutaneous and pulmonary inflammation, chondritis, and vasculitis, which is abbreviated as VEXAS. Objective: This study aimed to (retrospectively) diagnose VEXAS in patients who had previously been registered as having unclassified autoinflammation. We furthermore aimed to describe clinical experiences with this multifaceted, complex disease. Methods: A systematic reanalysis of whole-exome sequencing data from a cohort of undiagnosed patients with autoinflammation from academic hospitals in The Netherlands was performed. When no sequencing data were available, targeted Sanger sequencing was applied in cases with high clinical suspicion of VEXAS. Results: A total of 12 male patients who carried mutations in UBA1 were identified. These patients presented with adult-onset (mean age 67 years, range 47-79 years) autoinflammation with systemic symptoms, elevated inflammatory parameters, and multiorgan involvement, most typically involving the skin and bone marrow. Novel features of VEXAS included interstitial nephritis, cardiac involvement, stroke, and intestinal perforation related to treatment with tocilizumab. Although many types of treatment were initiated, most patients became treatment-refractory, with a high mortality rate of 50%. Conclusion: VEXAS should be considered in the differential diagnosis of males with adult-onset autoinflammation characterized by systemic symptoms and multiorgan involvement. Early diagnosis can prevent unnecessary diagnostic procedures and provide better prognostic information and more suitable treatment options, including stem cell transplantation. (J Allergy Clin Immunol 2022;149:432-9.)

Published
2022

7. C5b9 Formation on Endothelial Cells Reflects Complement Defects among Patients with Renal Thrombotic Microangiopathy and Severe Hypertension

Author

Sjoerd A.M.E.G. Timmermans, Myrurgia A. Abdul-Hamid, Chris P. M. Reutelingsperger, Pieter van Paassen, Jan Damoiseaux, Ruud Theunissen, Judith Potjewijd, Interne Geneeskunde, Promovendi CD, RS: CARIM - R1.02 - Vascular aspects thrombosis and haemostasis, MUMC+: DA Pat Pathologie (9), RS: GROW - R2 - Basic and Translational Cancer Biology, MUMC+: MA Nefrologie (9), MUMC+: DA CDL Algemeen (9), RS: NUTRIM - R3 - Respiratory & Age-related Health, Biochemie, and MUMC+: MA Klinische Immunologie (9)

Subjects
Male, 030232 urology & nephrology, Comorbidity, Complement Membrane Attack Complex, 030204 cardiovascular system & hematology, urologic and male genital diseases, Gastroenterology, Severity of Illness Index, ACTIVATION, 0302 clinical medicine, ECULIZUMAB, complement, Registries, C3 GLOMERULOPATHY, Complement Activation, Cells, Cultured, medicine.diagnostic_test, General Medicine, Eculizumab, Middle Aged, Prognosis, Endothelial stem cell, medicine.anatomical_structure, Nephrology, Disease Progression, Female, Kidney Diseases, Renal biopsy, medicine.drug, Adult, medicine.medical_specialty, Thrombotic microangiopathy, hypertension, Endothelium, PERFECT STORM, FACTOR-I, Renal function, Complement factor I, Antibodies, Monoclonal, Humanized, Risk Assessment, 03 medical and health sciences, renal biopsy, Clinical Research, Internal medicine, medicine, Humans, Aged, Retrospective Studies, MALIGNANT HYPERTENSION, business.industry, Thrombotic Microangiopathies, MUTATIONS, CLINICAL PHENOTYPE, Endothelial Cells, Complement System Proteins, medicine.disease, Complement system, Case-Control Studies, hemolytic uremic syndrome, Kidney Failure, Chronic, HEMOLYTIC-UREMIC SYNDROME, business, AHUS
Abstract

Background Severe hypertension can induce thrombotic microangiopathy (TMA) in the renal vasculature, the occurrence of which has been linked to mechanical stress to the endothelium. Complement defects may be the culprit of disease in patients who present with severe renal disease and often progress to ESRD, despite BP control. Methods We studied a well defined cohort of 17 patients with hypertension-associated TMA to define the prevalence of complement defects by a specific ex vivo serum-based microvascular endothelial cell assay. Results Compared with normal human serum and samples from patients with hypertensive arterionephrosclerosis, 14 of 16 (87.5%) serum samples collected at presentation from 16 patients with hypertension-associated TMA induced abnormal C5b9 formation on microvascular endothelial cells. We detected rare variants in complement genes in eight of 17 (47%) patients. ESRD occurred in 14 of 17 (82%) patients, and recurrent TMA after transplant occurred in seven of 11 (64%) donor kidneys. Eculizumab improved the renal function in three patients and prevented TMA recurrence in an allograft recipient. Conclusions These observations point to complement defects as the key causative factor of ESRD and recurrent TMA after transplant in patients presenting with severe hypertension. Complement defects can be identified by measurements of complement activation on microvascular endothelial cells, which should substantially influence treatment and prognosis.

Published
2018
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8. Schnitzler’s syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenström’s disease

Author

Judith Potjewijd, Maaike Vreeburg, F.S. van Leersum, P.M. Steijlen, M. van Geel, MUMC+: MA AIOS Dermatologie (9), MUMC+: MA Nefrologie (9), MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Dermatologie (9), MUMC+: MA Dermatologie (3), Dermatologie, Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, and MUMC+: DA KG Polikliniek (9)

Subjects
0301 basic medicine, Autoinflammatory disease, Pharmacology toxicology, lcsh:Medicine, Schnitzler's syndrome, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, NLRP3, NLR Family, Pyrin Domain-Containing 3 Protein, medicine, Animals, Humans, Pharmacology (medical), Schnitzler Syndrome, Waldenstroms macroglobulinemia, Letter to the Editor, Genetics (clinical), Waldenstrom's disease, S syndrome, IGM, Mechanism (biology), business.industry, Schnitzler’s syndrome, Hereditary Autoinflammatory Diseases, lcsh:R, General Medicine, Hypothesis, Pathophysiology, Monoclonal gammopathy, Waldenströms macroglobulinemia, Urticarial rash, Myeloid Differentiation Factor 88, Immunology, medicine.symptom, MYD88, business, FOLLOW-UP, WALDENSTROMS MACROGLOBULINEMIA, 030217 neurology & neurosurgery, Interleukin-1
Abstract

Schnitzler’s syndrome is an auto-inflammatory disorder which is characterized by two mandatory features: an urticarial rash and a monoclonal gammopathy. Although the pathophysiology of this syndrome is not yet fully understood, a role for interleukin-1 seems apparent. While this presumed link between interleukin-1 and the monoclonal gammopathy is not yet elucidated, a mutual factor in pathophysiology however seems likely. Here we present a novel hypothesis of a shared pathophysiologic mechanism between Schitzler’s syndrome and monoclonal gammopathy.

Published
2019
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9. 276. SEVERE NON-INFECTIOUS MIXED-TYPE CRYOGLOBULINEMIC VASCULITIS: LONG-TERM OUTCOME DURING A CYCLOPHOSPHAMIDE-FREE TREATMENT REGIMEN

Author

Judith Potjewijd, Pieter van Paassen, Joop P. Aendekerk, Sjoerd A.M.E.G. Timmermans, and Jan Damoiseaux

Subjects
medicine.medical_specialty, Cyclophosphamide, Treatment regimen, business.industry, Mixed type, medicine.disease, Rheumatology, Internal medicine, medicine, Pharmacology (medical), business, Non infectious, Cryoglobulinemic vasculitis, medicine.drug
Published
2019
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10. 006. ANCA-ASSOCIATED VASCULITIS: IS THERAPY THE LESSER EVIL?

Author

Pieter van Paassen, N de Wit, Jan Damoiseaux, Joris Vanderlocht, Matthias Busch, Judith Potjewijd, Glenn van Hulst, and Joop P. Aendekerk

Subjects
medicine.medical_specialty, Rheumatology, business.industry, Medicine, Pharmacology (medical), ANCA-Associated Vasculitis, business, Dermatology
Published
2019
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12. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Author

Jayne Y. Hehir-Kwa, Njood Alenezi, Stefan H. Lelieveld, Badr Alsaleem, Arjen R. Mensenkamp, Marcel van Deuren, Christian Gilissen, Mofareh AlZahrani, Murad K. Habazi, Eman AlIdrissi, Mihai G. Netea, Alaa B. Alsaad, Pieter van Paassen, Wendy A. G. van Zelst-Stams, Hadeel A. AlJubab, Maartje van de Vorst, Sarah Hortillosa, Joris A. Veltman, Abdulrahman Al-Hussaini, Stefanie S. V. Henriet, Anja Wagner, Hamza A. AlGhamdi, Fahad AlManjomi, Maaike Vreeburg, Annet Simons, Walid Ballourah, Esther P A H Hoppenreijs, Chantal P. Bleeker-Rovers, Jukka S. Moilanen, M.A. MacKenzie, Dimitra Zafeiropoulou, Abdulrahman A. Andijani, Michiel van der Flier, Peer Arts, Judith Potjewijd, Eissa Faqeih, Koen J. van Aerde, Gijs Th. J. van Well, Frank L. van de Veerdonk, Erica H. Gerkes, Anna Simon, Tomasz Stokowy, Evelien Zonneveld-Huijssoon, Ali Asery, Khurram Lone, Chantal Kerkhofs, Janneke H M Schuurs-Hoeijmakers, Marcel R. Nelen, Riikka Keski-Filppula, Jaap ten Oever, Alexander Hoischen, Elanur Yilmaz, Arts, Peer, Simons, Annet, Alzahrani, Mofareh S, Yilmaz, Elanur, Hoischen, Alexander, MUMC+: DA KG Polikliniek (9), MUMC+: MA Nefrologie (9), RS: Carim - B02 Vascular aspects thrombosis and Haemostasis, Interne Geneeskunde, MUMC+: MA Klinische Immunologie (9), RS: CARIM - R1.02 - Vascular aspects thrombosis and haemostasis, Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), MUMC+: MA Arts Assistenten Kindergeneeskunde (9), RS: NUTRIM - R1 - Obesity, diabetes and cardiovascular health, and Clinical Genetics

Subjects
Male, Exome sequencing, 0301 basic medicine, Primary immunodeficiencies, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], lcsh:Medicine, CHILDREN, Disease, VARIANTS, Bioinformatics, DISEASE, Cancer development and immune defence Radboud Institute for Health Sciences [Radboudumc 2], 0302 clinical medicine, Medicine, Medical diagnosis, Genetics (clinical), Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Middle Aged, routine diagnostics, 3. Good health, DEFICIENCY, Child, Preschool, Genetic diagnosis, 030220 oncology & carcinogenesis, Routine diagnostics, Molecular Medicine, Female, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], primary immunodeficiencies, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, lcsh:QH426-470, Adolescent, GAIN-OF-FUNCTION, CENTROMERIC INSTABILITY, Primary Immunodeficiency Diseases, In silico, Context (language use), Sensitivity and Specificity, genetic diagnosis, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Genetics, Humans, Genetic Testing, Molecular Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, business.industry, Research, lcsh:R, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Infant, STEM-CELL TRANSPLANTATION, Human genetics, lcsh:Genetics, 030104 developmental biology, lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], HEMATOPOIETIC STEM, Clinical diagnosis, AUTOSOMAL-DOMINANT, business, exome sequencing
Abstract

Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test. Methods In May 2013, we implemented exome sequencing in routine diagnostics for patients suffering from PIDs. This study reports the clinical utility and diagnostic yield for a heterogeneous group of 254 consecutively referred PID patients from 249 families. For the majority of patients, the clinical diagnosis was based on clinical criteria including rare and/or unusual severe bacterial, viral, or fungal infections, sometimes accompanied by autoimmune manifestations. Functional immune defects were interpreted in the context of aberrant immune cell populations, aberrant antibody levels, or combinations of these factors. Results For 62 patients (24%), exome sequencing identified pathogenic variants in well-established PID genes. An exome-wide analysis diagnosed 10 additional patients (4%), providing diagnoses for 72 patients (28%) from 68 families altogether. The genetic diagnosis directly indicated novel treatment options for 25 patients that received a diagnosis (34%). Conclusion Exome sequencing as a first-tier test for PIDs granted a diagnosis for 28% of patients. Importantly, molecularly defined diagnoses indicated altered therapeutic options in 34% of cases. In addition, exome sequencing harbors advantages over gene panels as a truly generic test for all genetic diseases, including in silico extension of existing gene lists and re-analysis of existing data. Electronic supplementary material The online version of this article (10.1186/s13073-019-0649-3) contains supplementary material, which is available to authorized users.

Published
2019

13. Necrotizing vasculitis in immediate response to a shoulder dislocation

Author

P. Van Paassen, Loes van Hooff, Judith Potjewijd, Dennis G. Barten, MUMC+: MA Nefrologie (9), Interne Geneeskunde, RS: CARIM - R1.02 - Vascular aspects thrombosis and haemostasis, and MUMC+: MA Klinische Immunologie (9)

Subjects
Vasculitis, musculoskeletal diseases, Systemic disease, medicine.medical_specialty, Dislocated joints, Methylprednisolone, 03 medical and health sciences, 0302 clinical medicine, Dislocation (syntax), Necrotizing Vasculitis, medicine, Humans, Joint dislocation, Cryoglobulinaemic vasculitis, Aged, 80 and over, 030222 orthopedics, Plasma Exchange, business.industry, Shoulder Dislocation, General Medicine, medicine.disease, Surgery, Cryoglobulinemia, Emergency Medicine, Female, business, 030217 neurology & neurosurgery
Abstract

The shoulder is one of the most commonly dislocated joints in the human body. Complications usually represent local damage. However, it is unclear whether joint dislocations can have systemic sequellae as wSell. Here we present the case of an 86-year-old female who developed necrotizing cryoglobulinaemic vasculitis in immediate response to a shoulder dislocation. We hypothesize there might be a link between trauma and systemic disease. (C) 2018 Elsevier Inc. All rights reserved.

Published
2018

14. Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor beta 1 deficiency

Author

Annelies van Wengen, Judith Potjewijd, Jan Damoiseaux, Esther van de Vosse, Roelof A. de Paus, Annelies Verbon, Internal Medicine, MUMC+: DA CDL Algemeen (9), Medische Microbiologie, RS: NUTRIM - R4 - Gene-environment interaction, RS: CAPHRI School for Public Health and Primary Care, and Interne Geneeskunde

Subjects
Adult, Male, Genotype, IL-12R-BETA-1 DEFICIENCY, Immunology, Mycobacterium genavense, Mycobacterium Infections, Nontuberculous, Late onset, Type-1 cytokine pathway, IMMUNITY, Immunophenotyping, Interleukin-12 Receptor beta 1 Subunit, Immunology and Allergy, Medicine, Humans, Phosphorylation, Receptor, Nontuberculous mycobacteria, biology, Base Sequence, business.industry, Amino acid substitution, Receptors, Interleukin, Interleukin-12/23 receptor beta 1 deficiency, STAT4 Transcription Factor, biology.organism_classification, Virology, Nontuberculous mycobacterium, Mutation (genetic algorithm), Mutation, Interleukin 12, Cytokines, business
Abstract

A patient presented with late onset disseminated nontuberculous mycobacterium (NTM) infection due to a novel interleukin-12/interleukin-23 receptor beta 1 (IL-12/IL-23R beta 1) mutation, r.1561C>G, leading to the amino acid substitution R521G. This is the second patient reported with a partial IL-12/IL-23R beta 1 defect. (C) 2012 Elsevier Inc. All rights reserved.

Published
2012

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