Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis

Authors: Arts, Rob J.W., Bijker, Else M., Bruno, Mariolina, Hobo, Willemijn, Hoppenreijs, Esther, de Jonge, Marien I., van Laarhoven, Arjan, van der Molen, Renate, Oud, Manon, Schatorje, Ellen J.H., Smeets, Ruben, Sprenkeler, Evelien G.G., Stol, Kim, Verhagen, Lilly M., Zonneveld-Huijssoon, Evelien, Vorsteveld, Emil E., Van der Made, Caspar I., Smeekens, Sanne P., Schuurs-Hoeijmakers, Janneke H., Astuti, Galuh, Diepstra, Heleen, Gilissen, Christian, Hoenselaar, Evelien, Janssen, Alice, van Roozendaal, Kees, Engelen, Jettie Sikkema-van, Steyaert, Wouter, Weiss, Marjan M., Yntema, Helger G., Mantere, Tuomo, AlZahrani, Mofareh S., van Aerde, Koen, Derfalvi, Beata, Faqeih, Eissa Ali, Henriet, Stefanie S.V., van Hoof, Elise, Idressi, Eman, Issekutz, Thomas B., Jongmans, Marjolijn C.J., Keski-Filppula, Riikka, Krapels, Ingrid, te Loo, Maroeska, Mulders-Manders, Catharina M., ten Oever, Jaap, Potjewijd, Judith, Sarhan, Nora Tarig, Slot, Marjan C., Terhal, Paulien A., Thijs, Herman, Vandersteen, Anthony, Vanhoutte, Els K., van de Veerdonk, Frank, van Well, Gijs, Netea, Mihai G., Simons, Annet, Hoischen, Alexander

Source: In Clinical Immunology November 2024 268

Een boekje brengt verbetering

Authors: de Bont, Eefje, Dinant, Geert-Jan, Elshout, Gijs, van Well, Gijs, Francis, Nick, Winkens, Bjorn, Cals, Jochen

Source: Huisarts en wetenschap. 62(6):14-18

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100104482583.0x000001&indx=1&recIds=ETOCvdc_100104482583.0x000001

Lessons learned from the diagnostic work-up of a patient with the bare lymphocyte syndrome type II

Authors: Damoiseaux, Maurits, Damoiseaux, Jan, Pico-Knijnenburg, Ingrid, van der Burg, Mirjam, Bredius, Robbert, van Well, Gijs

Source: Clinical immunology. 235

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100155119891.0x000001&indx=1&recIds=ETOCvdc_100155119891.0x000001

Booklet for Childhood Fever in Out-of-Hours Primary Care: A Cluster-Randomized Controlled Trial

Authors: de Bont, Eefje G. P. M., Dinant, Geert-Jan, Elshout, Gijs, van Well, Gijs, Francis, Nick A., Winkens, Bjorn, Cals, Jochen W. L.

Source: Annals of family medicine. 16(4):314-321

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN616665880&indx=1&recIds=ETOCRN616665880

Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.

Authors: Verschoof, Merelijne A., van Meenen, Laura C. C., Andriessen, M. Valérie E., Brinkman, Daniëlle M. C., Kamphuis, Sylvia, Kuijpers, Taco W., Leavis, Helen L., Legger, G. Elizabeth, Mulders‐Manders, Catharina M., de Pagter, Anne P. J., Rutgers, Abraham, van Well, Gijs T. J., Coutinho, Jonathan M., Hak, A. Elisabeth, van Montfrans, Joris M., Klouwer, Femke C. C.

Source: European Journal of Neurology; Jan2024, Vol. 31 Issue 1, p1-9, 9p

Subject Terms: ADENOSINE deaminase, TRANSIENT ischemic attack, ISCHEMIC stroke, HEMORRHAGIC stroke, TUMOR necrosis factors, STROKE

Geographic Terms: NETHERLANDS

Myositis bij grieperige kinderen

Authors: Hilderink, Michelle, Van Well, Gijs

Source: Nederlands tijdschrift voor geneeskunde. 161(40):25-28

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN613083775&indx=1&recIds=ETOCRN613083775

Host Immune Response to Tuberculous Meningitis

Authors: Visser, Douwe H., Solomons, Regan S., Ronacher, Katharina, van Well, Gijs T., Heymans, Martijn W., Walzl, Gerhard, Chegou, Novel N., Schoeman, Johan F., van Furth, Anne M.

Source: Clinical Infectious Diseases, 2015 Jan . 60(2), 177-187.

Access URL: https://www.jstor.org/stable/26362617

Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.

Authors: Andriessen, Marie Valérie E., Legger, G. Elizabeth, Bredius, Robbert G. M., van Gijn, Marielle E., Hak, A. Elisabeth, Muller, Petra C. E. Hissink, Kamphuis, Sylvia, Klouwer, Femke C. C., Kuijpers, Taco W., Leavis, Helen L., Nierkens, Stefan, Rutgers, Abraham, van der Veken, Lars T., van Well, Gijs T. J., Mulders-Manders, Catharina M., van Montfrans, Joris M.

Source: Journal of Clinical Immunology; Oct2023, Vol. 43 Issue 7, p1581-1596, 16p

Subject Terms: HEMATOPOIETIC stem cell transplantation, BASAL cell carcinoma, SYMPTOMS, HEMOPHAGOCYTIC lymphohistiocytosis, AUTOINFLAMMATORY diseases

Single Nucleotide Polymorphisms in TLR9 Are Highly Associated with Susceptibility to Bacterial Meningitis in Children

Authors: Sanders, Marieke S., van Well, Gijs Th. J., Ouburg, Sander, Lundberg, Patric S.J., van Furth, A. Marceline, Morré, Servaas A.

Source: Clinical Infectious Diseases, 2011 Feb . 52(4), 475-480.

Access URL: http://dx.doi.org/10.1093/cid/ciq155

A New Murine Model to Study the Pathogenesis of Tuberculous Meningitis

Authors: van Well, Gijs Th. J., Wieland, Catharina W., Florquin, Sandrine, Roord, John J., van der Poll, Tom, van Furth, A. Marceline

Source: The Journal of Infectious Diseases, 2007 Mar 01. 195(5), 694-697.

Access URL: https://www.jstor.org/stable/30087480

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

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

Source: Genome medicine. 11(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100130325091.0x000001&indx=1&recIds=ETOCvdc_100130325091.0x000001

Increased rate of respiratory symptoms in children with Down syndrome: a 2-year web-based parent-reported prospective study.

Authors: Eijsvoogel, Noortje B., Verstegen, Ruud H. J., van Well, Gijs Th. J., van Hout, Roeland W. N. M., de Vries, Esther

Source: European Journal of Pediatrics; Dec2022, Vol. 181 Issue 12, p4079-4089, 11p, 2 Charts, 3 Graphs

Subject Terms: RESPIRATORY diseases, DOWN syndrome, CHILDREN with intellectual disabilities, PEDIATRIC respiratory diseases, PARENTS

Management of severe neonatal respiratory distress due to vertical transmission of severe acute respiratory syndrome coronavirus 2: a case report.

Authors: Verheijen, Anne C., Janssen, Eva E. R., van der Putten, Mayke E., van Horck, Marieke W. P., van Well, Gijs T. J., Van Loo, Inge H. M., Hütten, Matthias C., Van Mechelen, Karen

Source: Journal of Medical Case Reports; 10/23/2022, Vol. 16 Issue 1, p1-6, 6p

Rotavirus Vaccine Safety and Effectiveness in Infants With High-Risk Medical Conditions

Authors: van Dongen, Josephine A. P., Rouers, Elsbeth D. M., Schuurman, Rob, Band, Caterina, Watkins, Shannon M., van Houten, Marlies A., Bont, Louis J., Norbruis, Obbe F., Hemels, Marieke A. C., van Well, Gijs T. J.

Source: Pediatrics. 148(6):29-29

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN628243361&indx=1&recIds=ETOCRN628243361

Toll-like receptor 9 polymorphisms are associated with severity variables in a cohort of meningococcal meningitis survivors

Authors: Sanders Marieke S, van Well Gijs TJ, Ouburg Sander, Morré Servaas A, van Furth A

Source: BMC Infectious Diseases, Vol 12, Iss 1, p 112 (2012)

Subject Terms: Infectious and parasitic diseases, RC109-216

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2334/12/112; https://doaj.org/toc/1471-2334

Access URL: https://doaj.org/article/40d1c079ecf04792a71bdea2e9f3983e

Single Nucleotide Polymorphisms in Pathogen Recognition Receptor Genes Are Associated with Susceptibility to Meningococcal Meningitis in a Pediatric Cohort

Authors: van Well, Gijs Th J.^1,2, Sanders, Marieke S.^1,3, Ouburg, Sander³, Kumar, Vinod⁴, van Furth, A. Marceline¹, Morré, Servaas A.^3,5 samorretravel@yahoo.co.uk

Source: PLoS ONE. May2013, Vol. 8 Issue 5, p1-7. 7p.

Subject Terms: *SINGLE nucleotide polymorphisms, *PATHOGENIC microorganisms, *MENINGITIS in children, *COHORT analysis, *WORD deafness, *LEARNING disabilities, *BRAIN diseases, CENTRAL nervous system infections

Polymorphisms in Toll-Like Receptors 2, 4, and 9 Are Highly Associated with Hearing Loss in Survivors of Bacterial Meningitis.

Authors: van Well, Gijs Th J.^1,2, Sanders, Marieke S.^1,3,4, Ouburg, Sander³, van Furth, A. Marceline¹, Morré, Servaas A.^3,5 samorretravel@yahoo.co.uk

Source: PLoS ONE. May2012, Vol. 7 Issue 5, p1-8. 8p.

Subject Terms: *MENINGITIS, *HEARING disorders, *GENES, *PATHOGENIC microorganisms, *PNEUMOCOCCAL meningitis, *CHILDREN, *GENETIC markers, *SINGLE nucleotide polymorphisms

Spinal tuberculosis in a 14-year-old immigrant in the Netherlands.

Authors: Van Well, Gijs Th. J.^1,2 g.vanwell@vumc.nl, Van der Mark, Lonneke B.¹, Vermeulen, R. Jeroen³, Van Royen, Barend J.⁴, Wuisman, Paul I. J. M.⁴, Van Furth, A. Marceline¹

Source: European Journal of Pediatrics. Oct2007, Vol. 166 Issue 10, p1071-1073. 3p. 1 Black and White Photograph.

Subject Terms: *POTT'S disease, *NEUROLOGICAL disorders, *NECROSIS, *CHRONIC granulomatous disease, *TUBERCULOSIS

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Human perinatal immunity in physiological conditions and during infection.

Authors: van Well, Gijs, Daalderop, Leonie, Wolfs, Tim, Kramer, Boris

Source: Molecular & Cellular Pediatrics; 4/21/2017, Vol. 4 Issue 1, p1-11, 11p

Subject Terms: PERINATOLOGY, VERTICAL transmission (Communicable diseases), IMMUNITY, FETAL development, POSTNATAL care, THERAPEUTICS