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2. Immunogenicity of COVID-19 booster vaccination in IEI patients and their one year clinical follow-up after start of the COVID-19 vaccination program

Author

Leanne P. M. van Leeuwen, Marloes Grobben, Corine H. GeurtsvanKessel, Pauline M. Ellerbroek, Godelieve J. de Bree, Judith Potjewijd, Abraham Rutgers, Hetty Jolink, Frank L. van de Veerdonk, Marit J. van Gils, Rory D. de Vries, Virgil A. S. H. Dalm, VACOPID Research Group, Eric C.M. van Gorp, Faye de Wilt, Susanne Bogers, Lennert Gommers, Daryl Geers, Marianne W. van der Ent, P. Martin van Hagen, Jelle W. van Haga, Bregtje A. Lemkes, Annelou van der Veen, Rogier W. Sanders, Karlijn van der Straten, Judith A. Burger, Jacqueline van Rijswijk, Khadija Tejjani, Joey H. Bouhuijs, Karina de Leeuw, Annick A.J.M. van de Ven, S.F.J. de Kruijf-Bazen, Pieter van Paassen, Lotte Wieten, Petra H. Verbeek-Menken, Annelies van Wengen, Anke H.W. Bruns, Helen L. Leavis, and Stefan Nierkens

Subjects
inborn errors of immunity, primary immunodeficiency disorders, SARS-CoV-2, mRNA-1273 COVID-19 vaccine, booster vaccination, immunogenicity, Immunologic diseases. Allergy, RC581-607
Abstract

PurposePrevious studies have demonstrated that the majority of patients with an inborn error of immunity (IEI) develop a spike (S)-specific IgG antibody and T-cell response after two doses of the mRNA-1273 COVID-19 vaccine, but little is known about the response to a booster vaccination. We studied the immune responses 8 weeks after booster vaccination with mRNA-based COVID-19 vaccines in 171 IEI patients. Moreover, we evaluated the clinical outcomes in these patients one year after the start of the Dutch COVID-19 vaccination campaign.MethodsThis study was embedded in a large prospective multicenter study investigating the immunogenicity of COVID-19 mRNA-based vaccines in IEI (VACOPID study). Blood samples were taken from 244 participants 8 weeks after booster vaccination. These participants included 171 IEI patients (X-linked agammaglobulinemia (XLA;N=11), combined immunodeficiency (CID;N=4), common variable immunodeficiency (CVID;N=45), isolated or undefined antibody deficiencies (N=108) and phagocyte defects (N=3)) and 73 controls. SARS-CoV-2-specific IgG titers, neutralizing antibodies, and T-cell responses were evaluated. One year after the start of the COVID-19 vaccination program, 334 study participants (239 IEI patients and 95 controls) completed a questionnaire to supplement their clinical data focusing on SARS-CoV-2 infections.ResultsAfter booster vaccination, S-specific IgG titers increased in all COVID-19 naive IEI cohorts and controls, when compared to titers at 6 months after the priming regimen. The fold-increases did not differ between controls and IEI cohorts. SARS-CoV-2-specific T-cell responses also increased equally in all cohorts after booster vaccination compared to 6 months after the priming regimen. Most SARS-CoV-2 infections during the study period occurred in the period when the Omicron variant had become dominant. The clinical course of these infections was mild, although IEI patients experienced more frequent fever and dyspnea compared to controls and their symptoms persisted longer.ConclusionOur study demonstrates that mRNA-based booster vaccination induces robust recall of memory B-cell and T-cell responses in most IEI patients. One-year clinical follow-up demonstrated that SARS-CoV-2 infections in IEI patients were mild. Given our results, we support booster campaigns with newer variant-specific COVID-19 booster vaccines to IEI patients with milder phenotypes.

Published
2024
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3. High Prevalence of Myositis-Specific and Associated Antibodies in Patients with Pulmonary Hypertension

Author

Rachid Tobal, Judith Potjewijd, Daan van Doorn, Vanessa van Empel, Jan Damoiseaux, and Pieter van Paassen

Subjects
pulmonary hypertension, myositis-specific antibodies, myositis-associated antibodies, immunology, auto-antibodies, Medicine (General), R5-920
Abstract

Pulmonary hypertension (PH) is a serious condition linked to immune-system dysfunction. Myositis-specific/associated antibodies (MSAs/MAAs) play a role in idiopathic inflammatory myopathy (IIM) and interstitial lung disease (ILD), but their significance in PH remains unclear. We believe the presence of these antibodies may be underestimated. This study analyzed adult PH patients without pre-existing IIM for MSA/MAA prevalence using a line-blot assay. We compared PH patients with and without ILD signs to a cohort clinically suspected of IIM/ILD (n = 558). Our PH cohort (n = 121) showed a significantly higher prevalence of overall weak positive MSAs/MAAs and positive overlap syndrome-associated MAAs than the suspected IIM/ILD group (p < 0.001). Notably, MSAs/MAAs were found in PH patients both with and without ILD, though more prevalent in those with ILD. Anti-synthetase and anti-overlap syndrome antibodies were the most common. Our study is the first to systematically show a high MSA/MAA prevalence in PH without IIM presentation. This highlights the need to consider PH when diagnosing MSA/MAA-associated conditions. We recommend MSA/MAA screening for newly diagnosed PH, especially in those with ILD, for early detection and potential immunomodulatory treatment. Further research should explore the link between MSAs/MAAs and PH, and the value of monitoring patients with weak MSA/MAA positivity over time.

Published
2024
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4. Plasma Dephosphorylated-Uncarboxylated Matrix Gla-Protein in Systemic Sclerosis Patients: Biomarker Potential for Vascular Calcification and Inflammation

Author

Judith Potjewijd, Rachid Tobal, Karin A. Boomars, Vanessa V. P. M. van Empel, Femke de Vries, Jan G. M. C. Damoiseaux, Leon J. Schurgers, and Pieter van Paassen

Subjects
systemic sclerosis, Matrix Gla Protein, cardiovascular risk, biomarker, Medicine (General), R5-920
Abstract

Background: Systemic sclerosis (SSc) patients face an elevated risk of cardiovascular disease (CVD), even when classic cardiovascular risk factors are considered. Plasma dephosphorylated-uncarboxylated Matrix Gla-protein (dp-ucMGP), an inactive form of MGP, is associated with increased CVD risk. Smooth muscle cells, implicated in SSc’s development, are the primary dp-ucMGP producers. This study assessed dp-ucMGP levels and initial CVD events in early-diagnosed SSc patients, investigating its potential as a CVD and all-cause mortality predictor over time. Methods: In a cohort of 87 SSc patients (excluding those with pre-existing CVD or on dialysis), baseline dp-ucMGP levels were measured, along with cardiovascular risk factors. Validation involved assessing dp-ucMGP in a subset of treatment-naive SSc patients. Results: A significantly elevated median dp-ucMGP level of 634 pmol/L (IQR 301) compared with healthy controls (dp-ucMGP < 393 pmol/L; p < 0.001) was observed. Validation in a treatment-naive SSc patient subset yielded similar results (median 589 pmol/L; IQR 370). During a median 10.5-year follow-up among 78 SSc patients, 33.3% experienced their first CVD event, independent of traditional risk factors. Elevated dp-ucMGP levels (>634 pmol/L) correlated with a higher risk of CVD and/or death (log-rank test: p < 0.01). Conclusions: In summary, dp-ucMGP emerges as a novel biomarker in SSc patients, with elevated levels indicating an increased risk of CVD and/or mortality in this population.

Published
2023
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5. Thrombin formation via the intrinsic coagulation pathway and von Willebrand factor reflect disease severity in COVID-19

Author

Matthias H. Busch, Sjoerd A.M.E.G. Timmermans, Sander M.J. van Kuijk, Joop P. Aendekerk, Renée Ysermans, Daan P.C. van Doorn, Judith Potjewijd, Marcel C.G. van de Poll, Iwan C.C. van der Horst, Jan G.M.C. Damoiseaux, Henri M.H. Spronk, Hugo ten Cate, Chris P. Reutelingsperger, Magdolna Nagy, and Pieter van Paassen

Subjects
Diseases of the blood and blood-forming organs, RC633-647.5
Published
2022
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6. Autoantibodies in the disease criteria for systemic sclerosis: The need for specification for optimal application

Author

Jan Damoiseaux, Judith Potjewijd, Ruben L. Smeets, and Carolien Bonroy

Subjects
Systemic sclerosis, Classification, Autoantibodies, Harmonization, Immunologic diseases. Allergy, RC581-607
Abstract

The ACR/EULAR classification criteria for systemic sclerosis (SSc) entail three autoantibodies: anti-centromere antibodies (ACA), anti-topoisomerase I antibodies (ATA), and anti-RNA-polymerase III antibodies (ARA). The importance of ACA and ATA in the classification criteria is evidence based, but the diagnostic value is overestimated by clinicians. Fortunately, these autoantibodies are characterized by good agreement between different immuno-assays. Inclusion of ARA, however, is based on limited evidence and is related to limited agreement between different immuno-assays. Harmonization of immuno-assays in terms of interpretation based on likelihood ratio's may improve future classification criteria for SSc and this needs to be achieved by close collaboration between clinicians, laboratory specialists and the diagnostic industry.

Published
2022
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7. Vascular Remodeling in Pulmonary Arterial Hypertension: The Potential Involvement of Innate and Adaptive Immunity

Author

Rachid Tobal, Judith Potjewijd, Vanessa P. M. van Empel, Renee Ysermans, Leon J. Schurgers, Chris P. Reutelingsperger, Jan G. M. C. Damoiseaux, and Pieter van Paassen

Subjects
pulmonary arterial hypertension, immunology, vascular remodeling, endotheliopathy, macrophage, histology, Medicine (General), R5-920
Abstract

Pulmonary arterial hypertension (PAH) is a severe disease with high morbidity and mortality. Current therapies are mainly focused on vasodilative agents to improve prognosis. However, recent literature has shown the important interaction between immune cells and stromal vascular cells in the pathogenic modifications of the pulmonary vasculature. The immunological pathogenesis of PAH is known as a complex interplay between immune cells and vascular stromal cells, via direct contacts and/or their production of extra-cellular/diffusible factors such as cytokines, chemokines, and growth factors. These include, the B-cell—mast-cell axis, endothelium mediated fibroblast activation and subsequent M2 macrophage polarization, anti-endothelial cell antibodies and the versatile role of IL-6 on vascular cells. This review aims to outline the major pathophysiological changes in vascular cells caused by immunological mechanisms, leading to vascular remodeling, increased pulmonary vascular resistance and eventually PAH. Considering the underlying immunological mechanisms, these mechanisms may be key to halt progression of disease.

Published
2021
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8. Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers

Author

Kim Elsink, Manon M. H. Huibers, Iris H. I. M. Hollink, Annet Simons, Evelien Zonneveld-Huijssoon, Lars T. van der Veken, Helen L. Leavis, Stefanie S. V. Henriet, Marcel van Deuren, Frank L. van de Veerdonk, Judith Potjewijd, Dagmar Berghuis, Virgil A. S. H. Dalm, Clementien L. Vermont, Annick A. J. M. van de Ven, Annechien J. A. Lambeck, Kristin M. Abbott, P. Martin van Hagen, Godelieve J. de Bree, Taco W. Kuijpers, Geert W. J. Frederix, Mariëlle E. van Gijn, Joris M. van Montfrans, the Genetics First for Primary Immunodeficiency Disorders Consortium, Aerde van, KJ, Altenburg, J, Armbrust W, Barendregt, BH, Berg van den, JM, Bredius, RGM, Buddingh, EP, Burg van der, M, Ellerbroek, PM, Ernst, RF, Fraaij, PLA, Hermans, M, Hoischen, A, Hout van der, AH, Jansen, MHA, Jolink, H, Jonkers, RE, Laar van, JAM, Leeuw de, K, Legger, GE, Leijten, EFA, Limper, M, Lindemans, CA, Oever ten, J, Pieterse, M, Rombach, SM, Rossum van, AMC, Rutgers, A, Santen, GWE, Schölvinck, EH, Simon, A, Stol, K, and Vervenne RML

Subjects
next-generation sequencing, inborn errors of immunity, diagnostic yield, gene panel, clinical implication, Immunologic diseases. Allergy, RC581-607
Abstract

ObjectiveInborn errors of immunity (IEI) are a heterogeneous group of disorders, affecting different components of the immune system. Over 450 IEI related genes have been identified, with new genes continually being recognized. This makes the early application of next-generation sequencing (NGS) as a diagnostic method in the evaluation of IEI a promising development. We aimed to provide an overview of the diagnostic yield and time to diagnosis in a cohort of patients suspected of IEI and evaluated by an NGS based IEI panel early in the diagnostic trajectory in a multicenter setting in the Netherlands.Study DesignWe performed a prospective observational cohort study. We collected data of 165 patients with a clinical suspicion of IEI without prior NGS based panel evaluation that were referred for early NGS using a uniform IEI gene panel. The diagnostic yield was assessed in terms of definitive genetic diagnoses, inconclusive diagnoses and patients without abnormalities in the IEI gene panel. We also assessed time to diagnosis and clinical implications.ResultsFor children, the median time from first consultation to diagnosis was 119 days versus 124 days for adult patients (U=2323; p=0.644). The median turn-around time (TAT) of genetic testing was 56 days in pediatric patients and 60 days in adult patients (U=1892; p=0.191). A definitive molecular diagnosis was made in 25/65 (24.6%) of pediatric patients and 9/100 (9%) of adults. Most diagnosed disorders were identified in the categories of immune dysregulation (n=10/25; 40%), antibody deficiencies (n=5/25; 20%), and phagocyte diseases (n=5/25; 20%). Inconclusive outcomes were found in 76/165 (46.1%) patients. Within the patient group with a genetic diagnosis, a change in disease management occurred in 76% of patients.ConclusionIn this cohort, the highest yields of NGS based evaluation for IEI early in the diagnostic trajectory were found in pediatric patients, and in the disease categories immune dysregulation and phagocyte diseases. In cases where a definitive diagnosis was made, this led to important disease management implications in a large majority of patients. More research is needed to establish a uniform diagnostic pathway for cases with inconclusive diagnoses, including variants of unknown significance.

Published
2021
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9. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Author

Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, and Alexander Hoischen

Subjects
Routine diagnostics, Genetic diagnosis, Exome sequencing, Primary immunodeficiencies, Medicine, Genetics, QH426-470
Abstract

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.

Published
2019
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10. Assessment of longitudinal serum neutrophil extracellular trap-inducing activity in anti-neutrophil cytoplasmic antibody-associated vasculitis and glomerulonephritis in a prospective cohort using a novel bio-impedance technique

Author

Joop P. Aendekerk, Renée Ysermans, Matthias H. Busch, Ruud O.M.F.I.H. Theunissen, Nele Bijnens, Judith Potjewijd, Jan G.M.C. Damoiseaux, Chris P. Reutelingsperger, and Pieter van Paassen

Subjects
Glomerulonephritis, Nephrology, Antineutrophil Cytoplasmic, Electric Impedance, Humans, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis, Prospective Studies, Extracellular Traps, Antibodies
Abstract

Neutrophil extracellular traps (NET) have been implicated in the pathogenesis of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). Here, we developed a novel, label-free, high-throughput bio-impedance technique to effectively measure serum NET-inducing activity. Using this technique, NET-inducing activity of serum derived from patients with AAV was assessed in a prospective cohort of 62 patients presenting with active AAV with major organ involvement. Thirty-five patients presented with new and 27 patients presented with relapsing AAV, of whom 38 had kidney and/or 31 had lung involvement. NET-inducing activity was assessed at diagnosis of active AAV (time zero), during the first 6 weeks of treatment, and after 6 months of treatment. Forty-seven patients revealed elevated NET-inducing activity at time zero. After initiation of immunosuppressive treatment, NET-inducing activity was reduced at six weeks. A subsequent increase at six months could potentially identify patients with relapsing disease (hazard ratio, 11.45 [interquartile range 1.36-96.74]). NET-inducing activity at time zero correlated with kidney function and proteinuria. Importantly, in kidney tissue, NETs co-localized with lesions typical of ANCA-associated glomerulonephritis and even correlated with systemic serum NET-inducing activity. Thus, our prospective data corroborate the importance of NET formation in AAV and ANCA-associated glomerulonephritis and the potential of longitudinal evaluation, as monitored by our novel bio-impedance assay and detailed histological evaluation.

Published
2023
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11. Immunogenicity of the mRNA-1273 COVID-19 vaccine in adult patients with inborn errors of immunity

Author

Leanne P.M. van Leeuwen, Corine H. GeurtsvanKessel, Pauline M. Ellerbroek, Godelieve J. de Bree, Judith Potjewijd, Abraham Rutgers, Hetty Jolink, Frank van de Veerdonk, Eric C.M. van Gorp, Faye de Wilt, Susanne Bogers, Lennert Gommers, Daryl Geers, Anke H.W. Bruns, Helen L. Leavis, Jelle W. van Haga, Bregtje A. Lemkes, Annelou van der Veen, S.F.J. de Kruijf-Bazen, Pieter van Paassen, Karina de Leeuw, Annick A.J.M. van de Ven, Petra H. Verbeek-Menken, Annelies van Wengen, Sandra M. Arend, Anja J. Ruten-Budde, Marianne W. van der Ent, P. Martin van Hagen, Rogier W. Sanders, Marloes Grobben, Karlijn van der Straten, Judith A. Burger, Meliawati Poniman, Stefan Nierkens, Marit J. van Gils, Rory D. de Vries, Virgil A.S.H. Dalm, Translational Immunology Groningen (TRIGR), MUMC+: MA Nefrologie (9), Interne Geneeskunde, MUMC+: MA Klinische Immunologie (9), RS: Carim - B02 Vascular aspects thrombosis and Haemostasis, Infectious diseases, AII - Infectious diseases, APH - Aging & Later Life, APH - Global Health, ACS - Amsterdam Cardiovascular Sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Microbiology and Infection Prevention, Graduate School, Virology, Epidemiology, Internal Medicine, and Immunology

Subjects
Adult, mRNA-1273 COVID-19 vaccine, XLA, COVID-19 Vaccines, Primary Immunodeficiency Diseases, Immunology, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], immunogenicity, Antibodies, Viral, immuno-genicity, CID, primary immunodeficiency disorders, SDG 3 - Good Health and Well-being, PRIMARY IMMUNODEFICIENCY, Agammaglobulinemia, Humans, Immunology and Allergy, Prospective Studies, SARS-CoV-2, CVID, Genetic Diseases, Inborn, Immunologic Deficiency Syndromes, COVID-19, Genetic Diseases, X-Linked, Inborn errors of immunity, antibody response, Antibodies, Neutralizing, Common Variable Immunodeficiency, T-cell response, Spike Glycoprotein, Coronavirus, 2019-nCoV Vaccine mRNA-1273
Abstract

Contains fulltext : 251906.pdf (Publisher’s version ) (Open Access) BACKGROUND: Patients with inborn errors of immunity (IEI) are at increased risk of severe coronavirus disease-2019 (COVID-19). Effective vaccination against COVID-19 is therefore of great importance in this group, but little is known about the immunogenicity of COVID-19 vaccines in these patients. OBJECTIVES: We sought to study humoral and cellular immune responses after mRNA-1273 COVID-19 vaccination in adult patients with IEI. METHODS: In a prospective, controlled, multicenter study, 505 patients with IEI (common variable immunodeficiency [CVID], isolated or undefined antibody deficiencies, X-linked agammaglobulinemia, combined B- and T-cell immunodeficiency, phagocyte defects) and 192 controls were included. All participants received 2 doses of the mRNA-1273 COVID-19 vaccine. Levels of severe acute respiratory syndrome coronavirus-2-specific binding antibodies, neutralizing antibodies, and T-cell responses were assessed at baseline, 28 days after first vaccination, and 28 days after second vaccination. RESULTS: Seroconversion rates in patients with clinically mild antibody deficiencies and phagocyte defects were similar to those in healthy controls, but seroconversion rates in patients with more severe IEI, such as CVID and combined B- and T-cell immunodeficiency, were lower. Binding antibody titers correlated well to the presence of neutralizing antibodies. T-cell responses were comparable to those in controls in all IEI cohorts, with the exception of patients with CVID. The presence of noninfectious complications and the use of immunosuppressive drugs in patients with CVID were negatively correlated with the antibody response. CONCLUSIONS: COVID-19 vaccination with mRNA-1273 was immunogenic in mild antibody deficiencies and phagocyte defects and in most patients with combined B- and T-cell immunodeficiency and CVID. Lowest response was detected in patients with X-linked agammaglobulinemia and in patients with CVID with noninfectious complications. The assessment of longevity of immune responses in these vulnerable patient groups will guide decision making for additional vaccinations.

Published
2022
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12. 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

13. 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

14. 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

15. 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

16. 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

17. Immunogenicity of the mRNA-1273 COVID-19 Vaccine in Patients With Inborn Errors of Immunity

Author

Leanne van Leeuwen, Corine GeurtsvanKessel, Pauline Ellerbroek, Godelieve J. de Bree, Judith Potjewijd, Abraham Rutgers, Hetty Jolink, Frank L. van de Veerdonk, Eric van Gorp, Faye de Wilt, Susanne Bogers, Lennert Gommers, Daryl Geers, Anke Bruns, Helen Leavis, Jelle van Haga, Bregtje Lemkes, Annelou van Veen, Suzanne de Kruijff, Pieter van Paassen, Karina de Leeuw, Annick van der Ven, Petra Verbeek, Annelies van Wengen, Sandra Arend, Anja Ruten-Budde, Marianne van der Ent, Martin van Hagen, Rogier Sanders, Marloes Grobben, Karlijn van der Straten, Judith A. Burger, Meliawati Poniman, Marit J. van Gils, Rory de Vries, and Virgil Dalm

Published
2022
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18. 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

19. 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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20. 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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21. 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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22. 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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24. 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

25. 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

27. 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

28. [Interstitial pneumonitis as an adverse effect of thalidomide]

Author

Jan B J, Scholte, Judith, Potjewijd, Paul J, Voogt, Frank L J, Custers, and Kon-Siong G, Jie

Subjects
Male, Humans, Angiogenesis Inhibitors, Lung Diseases, Interstitial, Multiple Myeloma, Aged, Thalidomide
Abstract

A 67-year-old man was admitted to the hospital with symptoms of progressive dyspnoea. For 2 months he had received second-line treatment with dexamethasone and thalidomide for a multiple myeloma. Physical examination revealed a tachypnoeic patient and arterial blood gas analysis revealed a respiratory alkalosis and severe hypoxaemia. A high-resolution CT scan showed diffuse ground glass opacities in both lungs. Pulmonary function testing indicated severe diffusion capacity impairment. Bronchoalveolar lavage and cultures excluded the possibility of an infectious agent. The thalidomide treatment was discontinued whereupon the hypoxaemia and the ground glass opacities resolved and the diffusion capacity impairment improved. When a patient treated with thalidomide presents with dyspnoea and hypoxaemia with ground glass opacities, thalidomide-induced pneumonitis should be considered. Withdrawing thalidomide is the only treatment.

Published
2009

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