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1. Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

Author

Vallée, T, Glasmacher, J, Buchner, H, Arkwright, P, Behrends, U, Bondarenko, A, Browning, M, Buchbinder, D, Cattoni, A, Chernyshova, L, Ciznar, P, Cole, T, Czogala, W, Dueckers, G, Edgar, J, Erbey, F, Fasth, A, Ferrua, F, Formankova, R, Gambineri, E, Gennery, A, Goldman, F, Gonzalez-Granado, L, Heilmann, C, Heiskanen-Kosma, T, Juntti, H, Kainulainen, L, Kanegane, H, Karaca, N, Sebnem Kilic, S, Klein, C, Koltan, S, Kondratenko, I, Meyts, I, Nasrullayeva, G, Notarangelo, L, Pasic, S, Pellier, I, Pignata, C, Misbah, S, Schulz, A, Segundo, G, Shcherbina, A, Slatter, M, Sokolic, R, Soler-Palacin, P, Stepensky, P, van Montfrans, J, Ryhänen, S, Wolska-Kuśnierz, B, Ziegler, J, Zhao, X, Aiuti, A, Ochs, H, Albert, M, Vallée, Tanja C, Glasmacher, Jannik S, Buchner, Hannes, Arkwright, Peter D, Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J, Buchbinder, David K, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogala, Wojciech, Dueckers, Gregor, Edgar, John David M, Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R, Goldman, Frederick D, Gonzalez-Granado, Luis Ignacio, Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Sebnem Kilic, Sara, Klein, Christoph, Koltan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M, Notarangelo, Lucia Dora, Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj Ahmed, Schulz, Ansgar S, Segundo, Gesmar RS, Shcherbina, Anna, Slatter, Mary A, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B, Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D, Albert, Michael H, Vallée, T, Glasmacher, J, Buchner, H, Arkwright, P, Behrends, U, Bondarenko, A, Browning, M, Buchbinder, D, Cattoni, A, Chernyshova, L, Ciznar, P, Cole, T, Czogala, W, Dueckers, G, Edgar, J, Erbey, F, Fasth, A, Ferrua, F, Formankova, R, Gambineri, E, Gennery, A, Goldman, F, Gonzalez-Granado, L, Heilmann, C, Heiskanen-Kosma, T, Juntti, H, Kainulainen, L, Kanegane, H, Karaca, N, Sebnem Kilic, S, Klein, C, Koltan, S, Kondratenko, I, Meyts, I, Nasrullayeva, G, Notarangelo, L, Pasic, S, Pellier, I, Pignata, C, Misbah, S, Schulz, A, Segundo, G, Shcherbina, A, Slatter, M, Sokolic, R, Soler-Palacin, P, Stepensky, P, van Montfrans, J, Ryhänen, S, Wolska-Kuśnierz, B, Ziegler, J, Zhao, X, Aiuti, A, Ochs, H, Albert, M, Vallée, Tanja C, Glasmacher, Jannik S, Buchner, Hannes, Arkwright, Peter D, Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J, Buchbinder, David K, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogala, Wojciech, Dueckers, Gregor, Edgar, John David M, Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R, Goldman, Frederick D, Gonzalez-Granado, Luis Ignacio, Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Sebnem Kilic, Sara, Klein, Christoph, Koltan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M, Notarangelo, Lucia Dora, Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj Ahmed, Schulz, Ansgar S, Segundo, Gesmar RS, Shcherbina, Anna, Slatter, Mary A, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B, Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D, and Albert, Michael H

Abstract

Wiskott-Aldrich syndrome (WAS) is a multifaceted monogenic disorder with a broad disease spectrum and variable disease severity and a variety of treatment options including allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT). No reliable biomarker exists to predict disease course and outcome for individual patients. A total of 577 patients with a WAS variant from 26 countries and a median follow-up of 8.9 years (range, 0.3-71.1), totaling 6118 patient-years, were included in this international retrospective study. Overall survival (OS) of the cohort (censored at HSCT or GT) was 82% (95% confidence interval, 78-87) at age 15 years and 70% (61-80) at 30 years. The type of variant was predictive of outcome: patients with a missense variant in exons 1 or 2 or with the intronic hot spot variant c.559+5G>A (class I variants) had a 15-year OS of 93% (89-98) and a 30-year OS of 91% (86-97), compared with 71% (62-81) and 48% (34-68) in patients with any other variant (class II; P < .0001). The cumulative incidence rates of disease-related complications such as severe bleeding (P = .007), life-threatening infection (P < .0001), and autoimmunity (P = .004) occurred significantly later in patients with a class I variant. The cumulative incidence of malignancy (P = .6) was not different between classes I and II. It confirms the spectrum of disease severity and quantifies the risk for specific disease-related complications. The class of the variant is a biomarker to predict the outcome for patients with WAS.

Published
2024

5. The efficacy and safety of systemic corticosteroids as first line treatment for granulomatous lymphocytic interstitial lung disease

Author

Smits, B., primary, Goldacker, S., additional, Seneviratne, S., additional, Malphettes, M., additional, Longhurst, H., additional, Mohamed, O.E., additional, Witt-Rautenberg, C., additional, Leeman, L., additional, Schwaneck, E., additional, Raymond, I., additional, Meghit, K., additional, Uhlmann, A., additional, Winterhalter, Ch., additional, van Montfrans, J., additional, Klima, M., additional, Workman, S., additional, Fieschi, C., additional, Lorenza, L., additional, Boyle, S., additional, Onyango-Odera, S., additional, Price, S., additional, Schmalzing, M., additional, Aurillac, V., additional, Prasse, A., additional, Hartmann, I., additional, Meerburg, J.J., additional, Kemner-van de Corput, M., additional, Tiddens, H., additional, Grimbacher, B., additional, Kelleher, P., additional, Patel, S.Y., additional, Korganow, A.-S., additional, Viallard, J.F., additional, Tony, H.P., additional, Bethune, C., additional, Schulze-Koops, H., additional, Witte, T., additional, Huissoon, A., additional, Baxendale, H., additional, Grigoriadou, S., additional, Oksenhendler, E., additional, Burns, S.O., additional, and Warnatz, K., additional

Published
2022
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10. The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database

Author

Schatorjé, E. J. H., Gathmann, B., van Hout, R. W. N. M., de Vries, E., Alsina, L, Baumann, U, Belohradsky, B H, Bienemann, K, Boardman, B, Borte, M, Bredius, R G, Brodszki, N, Caracseghi, F, Ciznar, P, de Vries, E, Driessen, G J, Dückers, G, Duppenthaler, A, Farmaki, E, Galal, N, Gennery, A, Gonzalez-Granado, L I, Hlavackova, E, Hoernes, M, Kilic, S S, Krüger, R, Kuijpers, T W, Kütükcüler, N, Llobet, P, Marques, L, van Montfrans, J M, Papadopoulou-Alataki, E, Paschenko, O, Pasic, S, Pietrogrande, M C, Pignata, C, Reda, S M, Reisli, I, Roesler, J, Santos, J L, Schölvinck, E H, Schulze, Ilka, Seidel, M G, Shcherbina, A, Sundin, M, Szaflarska, A, Velbri, S, Warnatz, K, and Warris, A

Published
2014
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12. Immunoglobulin replacement therapy versus antibiotic prophylaxis as treatment for incomplete primary antibody deficiency

Author

Smits, B. M., Kleine Budde, I., de Vries, E., ten Berge, I. J. M., Bredius, R. G. M., van Deuren, M., van Dissel, J. T., Ellerbroek, P. M., Van der Flier, M., van Hagen, P. M., Nieuwhof, C., Rutgers, B., Sanders, L. E. A. M., Simon, A., Kuijpers, T. W., van Montfrans, J. M., Smits, B. M., Kleine Budde, I., de Vries, E., ten Berge, I. J. M., Bredius, R. G. M., van Deuren, M., van Dissel, J. T., Ellerbroek, P. M., Van der Flier, M., van Hagen, P. M., Nieuwhof, C., Rutgers, B., Sanders, L. E. A. M., Simon, A., Kuijpers, T. W., and van Montfrans, J. M.

Abstract

Background: Patients with an IgG subclass deficiency (IgSD) ± specific polysaccharide antibody deficiency (SPAD) often present with recurrent infections. Previous retrospective studies have shown that prophylactic antibiotics (PA) and immunoglobulin replacement therapy (IRT) can both be effective in preventing these infections; however, this has not been confirmed in a prospective study. Objective To compare the efficacy of PA and IRT in a randomized crossover trial. Methods: A total of 64 patients (55 adults and 9 children) were randomized (2:2) between two treatment arms. Treatment arm A began with 12 months of PA, and treatment arm B began with 12 months of IRT. After a 3-month bridging period with cotrimoxazole, the treatment was switched to 12 months of IRT and PA, respectively. The efficacy (measured by the incidence of infections) and proportion of related adverse events in the two arms were compared. Results: The overall efficacy of the two regimens did not differ (p = 0.58, two-sided Wilcoxon signed-rank test). A smaller proportion of patients suffered a related adverse event while using PA (26.8% vs. 60.3%, p < 0.0003, chi-squared test). Patients with persistent infections while using PA suffered fewer infections per year after switching to IRT (2.63 vs. 0.64, p < 0.01). Conclusion: We found comparable efficacy of IRT and PA in patients with IgSD ± SPAD. Patients with persistent infections during treatment with PA had less infections after switching to IRT. Clinical Implication: Given the costs and associated side-effects of IRT, it should be reserved for patients with persistent infections despite treatment with PA.

Published
2021

15. Immunoglobulin A deficiency in children, an undervalued clinical issue

Author

Koenen, M H Mischa, van Montfrans, J M Joris, Sanders, E A M Elisabeth, Bogaert, D Debby, and Verhagen, L M Lilly

Subjects
Diagnostic approach, Clinical presentation, Microbiota, Long-term consequences, Prevalence, IgA deficiency, Review, early childhood, Children
Published
2019

16. A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease

Author

Smits, B. M., Lelieveld, P. H.C., Ververs, F. A., Turkenburg, M., de Koning, C., van Dijk, M., Leavis, H. L., Boelens, J. J., Lindemans, C. A., Bloem, A. C., van de Corput, L., van Montfrans, J., Nierkens, S., van Gijn, M. E., Geerke, D. P., Waterham, H. R., Koenderman, L., Boes, M., Smits, B. M., Lelieveld, P. H.C., Ververs, F. A., Turkenburg, M., de Koning, C., van Dijk, M., Leavis, H. L., Boelens, J. J., Lindemans, C. A., Bloem, A. C., van de Corput, L., van Montfrans, J., Nierkens, S., van Gijn, M. E., Geerke, D. P., Waterham, H. R., Koenderman, L., and Boes, M.

Published
2020
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17. A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease

Author

Infection & Immunity, Immuno/reuma onderzoek 1 (Vastert), Immuno/reuma onderzoek 7 (Montfrans), CTI Boes, CTI Nierkens, Cancer, CTI UDAIR, MS Reumatologie/Immunologie/Infectie, SCT patientenzorg, Regenerative Medicine and Stem Cells, Child Health, CDL Patiëntenzorg MI, Immuno/reuma patientenzorg, CTI Research, Genetica Sectie Genoomdiagnostiek, Experimentele Afdeling Longziekten, Immuno/reuma onderzoek 2 (Boes), Onderzoek, Smits, B. M., Lelieveld, P. H.C., Ververs, F. A., Turkenburg, M., de Koning, C., van Dijk, M., Leavis, H. L., Boelens, J. J., Lindemans, C. A., Bloem, A. C., van de Corput, L., van Montfrans, J., Nierkens, S., van Gijn, M. E., Geerke, D. P., Waterham, H. R., Koenderman, L., Boes, M., Infection & Immunity, Immuno/reuma onderzoek 1 (Vastert), Immuno/reuma onderzoek 7 (Montfrans), CTI Boes, CTI Nierkens, Cancer, CTI UDAIR, MS Reumatologie/Immunologie/Infectie, SCT patientenzorg, Regenerative Medicine and Stem Cells, Child Health, CDL Patiëntenzorg MI, Immuno/reuma patientenzorg, CTI Research, Genetica Sectie Genoomdiagnostiek, Experimentele Afdeling Longziekten, Immuno/reuma onderzoek 2 (Boes), Onderzoek, Smits, B. M., Lelieveld, P. H.C., Ververs, F. A., Turkenburg, M., de Koning, C., van Dijk, M., Leavis, H. L., Boelens, J. J., Lindemans, C. A., Bloem, A. C., van de Corput, L., van Montfrans, J., Nierkens, S., van Gijn, M. E., Geerke, D. P., Waterham, H. R., Koenderman, L., and Boes, M.

Published
2020

20. Disease evolution and response to rapamycin in Activated Phosphoinositide 3-Kinase delta syndrome: the european society for immunodeficiencies-Activated Phosphoinositide 3-Kinase d syndrome registry

Author

Maccari, M.E., Abolhassani, H., Aghamohammadi, A., Aiuti, A., Aleinikova, O., Bangs, C., Baris, S., Barzaghi, F., Baxendale, H., Buckland, M., Burns, S.O., Cancrini, C., Cant, A., Cathebras, P., Cavazzana, M., Chandra, A., Conti, F., Coulter, T., Devlin, L.A., Edgar, J.D.M., Faust, S., Fischer, A., Prat, M.G., Hammarstrom, L., Heeg, M., Jolles, S., Karakoc-Aydiner, E., Kindle, G., Kiykim, A., Kumararatne, D., Grimbacher, B., Longhurst, H., Mahlaoui, N., Milota, T., Moreira, F., Moshous, D., Mukhina, A., Neth, O., Neven, B., Nieters, A., Olbrich, P., Ozen, A., Schmid, J.P., Picard, C., Prader, S., Rae, W., Reichenbach, J., Rusch, S., Savic, S., Scarselli, A., Scheible, R., Sediva, A., Sharapova, S.O., Shcherbina, A., Slatter, M., Soler-Palacin, P., Stanislas, A., Suarez, F., Tucci, F., Uhlmann, A., van Montfrans, J., Warnatz, K., Williams, A.P., Wood, P., Kracker, S., Condliffe, A.M., and Ehl, S.

Abstract

Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal\ud dominant mutations in PIK3CD (APDS1) or PIK3R1 (APDS2), is a heterogeneous primary\ud immunodeficiency. While initial cohort-descriptions summarized the spectrum of clinical\ud and immunological manifestations, questions about long-term disease evolution and\ud response to therapy remain. The prospective European Society for Immunodeficiencies\ud (ESID)-APDS registry aims to characterize the disease course, identify outcome predictors,\ud and evaluate treatment responses. So far, 77 patients have been recruited (51\ud APDS1, 26 APDS2). Analysis of disease evolution in the first 68 patients pinpoints the early\ud occurrence of recurrent respiratory infections followed by chronic lymphoproliferation,\ud gastrointestinal manifestations, and cytopenias. Although most manifestations occur by\ud age 15, adult-onset and asymptomatic courses were documented. Bronchiectasis was\ud observed in 24/40 APDS1 patients who received a CT-scan compared with 4/15 APDS2\ud patients. By age 20, half of the patients had received at least one immunosuppressant,\ud but 2–3 lines of immunosuppressive therapy were not unusual before age 10. Response\ud to rapamycin was rated by physician visual analog scale as good in 10, moderate in 9,\ud and poor in 7. Lymphoproliferation showed the best response (8 complete, 11 partial,\ud 6 no remission), while bowel inflammation (3 complete, 3 partial, 9 no remission) and\ud cytopenia (3 complete, 2 partial, 9 no remission) responded less well. Hence, non-lymphoproliferative\ud manifestations should be a key target for novel therapies. This report from\ud the ESID-APDS registry provides comprehensive baseline documentation for a growing\ud cohort that will be followed prospectively to establish prognostic factors and identify\ud patients for treatment studies.

Published
2018

22. Immunoglobulin A deficiency in children, an undervalued clinical issue

Author

Koenen, M. H.(Mischa), van Montfrans, J. M.(Joris), Sanders, E. A.M.(Elisabeth), Bogaert, D. (Debby), Verhagen, L. M.(Lilly), Koenen, M. H.(Mischa), van Montfrans, J. M.(Joris), Sanders, E. A.M.(Elisabeth), Bogaert, D. (Debby), and Verhagen, L. M.(Lilly)

Published
2019

23. Immunoglobulin A deficiency in children, an undervalued clinical issue

Author

CTI Boes, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Immuno/reuma onderzoek 7 (Montfrans), Infectieziekten onderzoek3 (Bogaert), Arts-assistenten Kinderen, Koenen, M. H.(Mischa), van Montfrans, J. M.(Joris), Sanders, E. A.M.(Elisabeth), Bogaert, D. (Debby), Verhagen, L. M.(Lilly), CTI Boes, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Immuno/reuma onderzoek 7 (Montfrans), Infectieziekten onderzoek3 (Bogaert), Arts-assistenten Kinderen, Koenen, M. H.(Mischa), van Montfrans, J. M.(Joris), Sanders, E. A.M.(Elisabeth), Bogaert, D. (Debby), and Verhagen, L. M.(Lilly)

Published
2019

24. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Author

Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Lagos Gomez, M., Aldave Becerra, J. C., Ouachee-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., Van Montfrans, J., Camcioglu, Y., Kerns, L. A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., Reichenbach, J., Renner, E. D., Rosenzweig, S., Grimbacher, B., van de Veerdonk, F. L., Traidl-Hoffmann, C., Picard, C., Marodi, L., Morio, T., Kobayashi, M., Lilic, D., Milner, J. D., Holland, S., Casanova, J. -L., Puel A, Cypowyj S, Thumerelle C, Toulon A, Bustamante J, Tahuil N, SALHI, DALILA, Boiu S, Chopra C, Di Giovanni D, Bezrodnik L, Boutros J, Thomas C, Lacuesta G, Jannier S, Korganow AS, Paillard C, Boutboul, Bué M, Marie-Cardine A, Bayart S, Migaud M, Weiss, Karmochkine M, Garcia-Martinez JM, Stephan JL, Bensaid P, Jeannoel GP, Witte T, Baumann U, Harrer T, Navarrete C, ACOSTA HUGHES, BENJAMIN, Firinu, Pignata C, Picco P, Mendoza D, Lugo Reyes SO, Torres Lozano C, Ortega-Cisneros M, Cortina M, Mesdaghi M, Nabavi M, Español T, Martínez-Saavedra MT, Rezaei N, Zoghi S, Pac M, Barlogis V, Revon-Rivière G, Haimi-Cohen Y, Spiegel R, Miron D, Bouchaib J, Blancas-Galicia L, Toth B, Drexel B, Rohrlich PS, Lesens O, Hoernes M, Drewe E, Abinum M, Sawalle-Belohradsky J, Kindle G, Depner M, Milani L, Nikopensius T, Remm M, Talas UG, Tucker M, Willis M, Leonard S, Meuwissen H, Ferdman RM, CORBO UGULINO, WALLACE, Desai MM, Taur P, Badolato R, Soltesz B, Schnopp C, Jansson AF, Ayvaz D, Shabashova N, Chernyshova L, Bondarenko A, Moshous D, Neven B, Boubidi C, Ailal F, Giardino G, Del Giacco S, Bougnoux ME, Imai K, Okawa T, Mizoguchi Y, Ozaki Y, Takeuchi M, Hayakawa A, Lögering B, Reich K, Buhl T, Eyerich K, Schaller M, Arkwright PD, Gennery AR, Cant AJ, Warris A, Henriet S, Mekki N, Barbouche R, Ben Mustapha I, Bodemer, Polak M, Grimprel E, Burgel PR, Fischer A, Hermine O, Debré M, Kocacyk D, Dhalla F, Patel SY, Moens L, Haerynck F, Dullaers, Hoste L, Sanal O, Kilic SS, Roesler J, Lanternier F, Lortholary O, Fieschi C, Church JA, Roifman C, Yuenyongviwat A, Peterson P, Boisson-Dupuis S, Abel L, Marciano BE, Netea MG., Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Lagos Gomez, M., Aldave Becerra, J. C., Ouachee-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., Van Montfrans, J., Camcioglu, Y., Kerns, L. A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., Reichenbach, J., Renner, E. D., Rosenzweig, S., Grimbacher, B., van de Veerdonk, F. L., Traidl-Hoffmann, C., Picard, C., Marodi, L., Morio, T., Kobayashi, M., Lilic, D., Milner, J. D., Holland, S., Casanova, J. -L., Puel, A, Cypowyj, S, Thumerelle, C, Toulon, A, Bustamante, J, Tahuil, N, Salhi, Dalila, Boiu, S, Chopra, C, Di Giovanni, D, Bezrodnik, L, Boutros, J, Thomas, C, Lacuesta, G, Jannier, S, Korganow, A, Paillard, C, Boutboul, Bué, M, Marie-Cardine, A, Bayart, S, Migaud, M, Weiss, Karmochkine, M, Garcia-Martinez, Jm, Stephan, Jl, Bensaid, P, Jeannoel, Gp, Witte, T, Baumann, U, Harrer, T, Navarrete, C, ACOSTA HUGHES, Benjamin, Firinu, Pignata, C, Picco, P, Mendoza, D, Lugo Reyes, So, Torres Lozano, C, Ortega-Cisneros, M, Cortina, M, Mesdaghi, M, Nabavi, M, Español, T, Martínez-Saavedra, Mt, Rezaei, N, Zoghi, S, Pac, M, Barlogis, V, Revon-Rivière, G, Haimi-Cohen, Y, Spiegel, R, Miron, D, Bouchaib, J, Blancas-Galicia, L, Toth, B, Drexel, B, Rohrlich, P, Lesens, O, Hoernes, M, Drewe, E, Abinum, M, Sawalle-Belohradsky, J, Kindle, G, Depner, M, Milani, L, Nikopensius, T, Remm, M, Talas, Ug, Tucker, M, Willis, M, Leonard, S, Meuwissen, H, Ferdman, Rm, CORBO UGULINO, Wallace, Desai, Mm, Taur, P, Badolato, R, Soltesz, B, Schnopp, C, Jansson, Af, Ayvaz, D, Shabashova, N, Chernyshova, L, Bondarenko, A, Moshous, D, Neven, B, Boubidi, C, Ailal, F, Giardino, G, Del Giacco, S, Bougnoux, Me, Imai, K, Okawa, T, Mizoguchi, Y, Ozaki, Y, Takeuchi, M, Hayakawa, A, Lögering, B, Reich, K, Buhl, T, Eyerich, K, Schaller, M, Arkwright, Pd, Gennery, Ar, Cant, Aj, Warris, A, Henriet, S, Mekki, N, Barbouche, R, Ben Mustapha, I, Bodemer, Polak, M, Grimprel, E, Burgel, Pr, Fischer, A, Hermine, O, Debré, M, Kocacyk, D, Dhalla, F, Patel, Sy, Moens, L, Haerynck, F, Dullaers, Hoste, L, Sanal, O, Kilic, S, Roesler, J, Lanternier, F, Lortholary, O, Fieschi, C, Church, Ja, Roifman, C, Yuenyongviwat, A, Peterson, P, Boisson-Dupuis, S, Abel, L, Marciano, Be, and Netea, Mg.

Subjects
Male, 0301 basic medicine, Pediatrics, Clinical Trials and Observations, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], medicine.disease_cause, Biochemistry, Gastroenterology, Cohort Studies, STAT5 Transcription Factor, Medicine, Chronic mucocutaneous candidiasis, Child, Hematology, biology, Progressive multifocal leukoencephalopathy, Candidiasis, Chronic Mucocutaneous, Candidiasis, Orvostudományok, Middle Aged, Phenotype, STAT1 Transcription Factor, Staphylococcus aureus, Child, Preschool, Female, STAT3 Transcription Factor, Adult, Heterozygote, medicine.medical_specialty, Adolescent, Aged, Genetic Predisposition to Disease, Humans, Infant, Young Adult, Genetic Association Studies, Mutation, Immunology, Cell Biology, Chronic Mucocutaneous, Klinikai orvostudományok, Herpesviridae, Mycobacterium tuberculosis, 03 medical and health sciences, Internal medicine, Journal Article, ddc:610, Preschool, Key Points AD STAT1 GOF is the most common genetic cause of inherited CMC and is not restricted to a specific age or ethnic group. STAT1 GOF underlies a variety of infectious and autoimmune features, as well as carcinomas and aneurysms associated with a poor outcome, Type 1 diabetes, Cytopenia, business.industry, medicine.disease, biology.organism_classification, 030104 developmental biology, business
Abstract

Contains fulltext : 172671.pdf (Publisher’s version ) (Closed access) Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with them needed to be delineated. We enrolled 274 patients from 167 kindreds originating from 40 countries from 5 continents. Demographic data, clinical features, immunological parameters, treatment, and outcome were recorded. The median age of the 274 patients was 22 years (range, 1-71 years); 98% of them had CMC, with a median age at onset of 1 year (range, 0-24 years). Patients often displayed bacterial (74%) infections, mostly because of Staphylococcus aureus (36%), including the respiratory tract and the skin in 47% and 28% of patients, respectively, and viral (38%) infections, mostly because of Herpesviridae (83%) and affecting the skin in 32% of patients. Invasive fungal infections (10%), mostly caused by Candida spp. (29%), and mycobacterial disease (6%) caused by Mycobacterium tuberculosis, environmental mycobacteria, or Bacille Calmette-Guerin vaccines were less common. Many patients had autoimmune manifestations (37%), including hypothyroidism (22%), type 1 diabetes (4%), blood cytopenia (4%), and systemic lupus erythematosus (2%). Invasive infections (25%), cerebral aneurysms (6%), and cancers (6%) were the strongest predictors of poor outcome. CMC persisted in 39% of the 202 patients receiving prolonged antifungal treatment. Circulating interleukin-17A-producing T-cell count was low for most (82%) but not all of the patients tested. STAT1 GOF mutations underlie AD CMC, as well as an unexpectedly wide range of other clinical features, including not only a variety of infectious and autoimmune diseases, but also cerebral aneurysms and carcinomas that confer a poor prognosis.

Published
2016
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25. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype: An international survey of 274 patients from 167 kindreds

Author

Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Lagos Gomez, M., Aldave Becerra, J.C., Ouachée-Chardin, M., Fouyssac, F., Girisha, K.M., Etzioni, A., van Montfrans, J., Camcioglu, Y., Kerns, L.A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., Reichenbach, J., Renner, E.D., Rosenzweig, S., Grimbacher, B., van de Veerdonk, F.L., Traidl-Hoffmann, C., Picard, C., Maródi, L., Morio, T., Kobayashi, M., Lilic, D., Milner, J.D., Holland, S., Casanova, J.L., and Puel, A.

Abstract

Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with them needed to be delineated. We enrolled 274 patients from 167 kindreds originating from 40 countries from five continents. Demographic data, clinical features, immunological parameters, treatment, and outcome were recorded. The median age of the 274 patients was 22 years (range: 1 - 71 years); 98% of them had CMC, with a median age at onset of one year (range: 0 - 24 years). Patients often displayed bacterial (74%) infections, mostly due to Staphylococcus aureus (36%), including the respiratory tract and the skin in 47% and 28% of patients, respectively, and viral (38%) infections, mostly due to Herpesviridae (83%) and affecting the skin in 32% of patients. Invasive fungal infections (10%), mostly caused by Candida spp. (29%), and mycobacterial disease (6%) caused by Mycobacterium tuberculosis, environmental mycobacteria, or BCG vaccines, were less common. Many patients had autoimmune manifestations (37%), including hypothyroidism (22%), type 1 diabetes (4%), blood cytopenia (4%), and systemic lupus erythematosus (2%). Invasive infections (25%), cerebral aneurysms (6%), and cancers (6%) were the strongest predictors of poor outcome. CMC persisted in 39% of the 202 patients receiving prolonged antifungal treatment. Circulating IL-17A-producing T-cell count was low for most (82%) but not all of the patients tested. STAT1 GOF mutations underlie AD CMC, as well as an unexpectedly wide range of other clinical features, including not only a variety of infectious and autoimmune diseases, but also cerebral aneurysms and carcinomas that confer a poor prognosis.

Published
2016

26. Neonatale erythrodermie en collodionbaby

Author

Cuperus, E., Van Montfrans, J. M., Van Hasselt, P. M., Van Der Smagt, J. J., Sigurdsson, V., Van Dijk, M. R., Van Gijn, M. E., and Pasmans, S. G M A

Subjects
Infectious Diseases, Critical Care and Intensive Care Medicine
Abstract

Erythroderma in the newborn is rare and can be fatal. Ichthyosis, immunodeficiencies, infections and metabolic disorders are among the most common causes. An overview will be given of the most common causes of congenital (present at birth) and neonatal (developed within 4 weeks postpartum) erythroderma, including the collodion baby. Especially an immunodeficiency or metabolic disorder can be missed, as signs as lymphadenopathy, fever and 'failure to thrive' are absent. An erythrodermic newborn does not have to appear ill. It takes up to 11 months until a definitive diagnosis is made. To prevent complications and death,early and specific are needed. Unfortunately, history, physical examination and histological investigations are not always diagnostic and immunological and genetic research is needed. We have made a national protocol on how to approach the erythrodermic newborn. This is to be found using the following website: www.huidhuis.nl/afdeling/neonataleerythrodermie. The protocol is being tested in a prospective study at moment at the Erasmus MC. Doctors who are confronted by an erythrodermic neonate, are advised to follow this protocol.

Published
2015

27. Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions

Author

Renkema, G. Herma, Visser, G., Baertling, F., Wintjes, L. T., Wolters, V. M., van Montfrans, J., de Kort, G. A.P., Nikkels, P. G.J., van Hasselt, P. M., van der Crabben, S. N., Rodenburg, Richard J. T., Renkema, G. Herma, Visser, G., Baertling, F., Wintjes, L. T., Wolters, V. M., van Montfrans, J., de Kort, G. A.P., Nikkels, P. G.J., van Hasselt, P. M., van der Crabben, S. N., and Rodenburg, Richard J. T.

Published
2017

28. Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions

Author

UMC Utrecht, Metabole ziekten patientenzorg, Child Health, MDL patientenzorg, Immuno/reuma patientenzorg, Infection & Immunity, MS Radiologie, Circulatory Health, Pathologie Groep Moelans, Pathologie Pathologen staf, Cancer, Cluster C, Renkema, G. Herma, Visser, G., Baertling, F., Wintjes, L. T., Wolters, V. M., van Montfrans, J., de Kort, G. A.P., Nikkels, P. G.J., van Hasselt, P. M., van der Crabben, S. N., Rodenburg, Richard J. T., UMC Utrecht, Metabole ziekten patientenzorg, Child Health, MDL patientenzorg, Immuno/reuma patientenzorg, Infection & Immunity, MS Radiologie, Circulatory Health, Pathologie Groep Moelans, Pathologie Pathologen staf, Cancer, Cluster C, Renkema, G. Herma, Visser, G., Baertling, F., Wintjes, L. T., Wolters, V. M., van Montfrans, J., de Kort, G. A.P., Nikkels, P. G.J., van Hasselt, P. M., van der Crabben, S. N., and Rodenburg, Richard J. T.

Published
2017

29. Primary immunodeficiencies in the Netherlands : National patient data demonstrate the increased risk of malignancy

Author

Jonkman-Berk, B. M., van den Berg, J. M., ten Berge, I. J M, Bredius, R. G M, Driessen, G. J., Dalm, V. A S H, van Dissel, J. T., van Deuren, M., Ellerbroek, P. M., van der Flier, M., van Hagen, P. M., van Montfrans, J. M., Rutgers, A., Schölvinck, E. H., de Vries, E., van Beem, R. T., Kuijpers, T. W., Jonkman-Berk, B. M., van den Berg, J. M., ten Berge, I. J M, Bredius, R. G M, Driessen, G. J., Dalm, V. A S H, van Dissel, J. T., van Deuren, M., Ellerbroek, P. M., van der Flier, M., van Hagen, P. M., van Montfrans, J. M., Rutgers, A., Schölvinck, E. H., de Vries, E., van Beem, R. T., and Kuijpers, T. W.

Published
2015

30. Neonatale erythrodermie en collodionbaby

Author

Genetica Klinische Genetica, Circulatory Health, OK WKZ Bureau, Immuno/reuma patientenzorg, Infection & Immunity, Child Health, Metabole ziekten patientenzorg, UMC Utrecht, Afdeling Dermatologie/Allergologie, MS Dermatologie/Allergologie, Other research (not in main researchprogram), Project Ondersteuning, Genetica Sectie Genoomdiagnostiek, Cuperus, E., Van Montfrans, J. M., Van Hasselt, P. M., Van Der Smagt, J. J., Sigurdsson, V., Van Dijk, M. R., Van Gijn, M. E., Pasmans, S. G M A, Genetica Klinische Genetica, Circulatory Health, OK WKZ Bureau, Immuno/reuma patientenzorg, Infection & Immunity, Child Health, Metabole ziekten patientenzorg, UMC Utrecht, Afdeling Dermatologie/Allergologie, MS Dermatologie/Allergologie, Other research (not in main researchprogram), Project Ondersteuning, Genetica Sectie Genoomdiagnostiek, Cuperus, E., Van Montfrans, J. M., Van Hasselt, P. M., Van Der Smagt, J. J., Sigurdsson, V., Van Dijk, M. R., Van Gijn, M. E., and Pasmans, S. G M A

Published
2015

31. Primary immunodeficiencies in the Netherlands: National patient data demonstrate the increased risk of malignancy

Author

MS Infectieziekten, Infection & Immunity, Immuno/reuma patientenzorg, Child Health, Jonkman-Berk, B. M., van den Berg, J. M., ten Berge, I. J M, Bredius, R. G M, Driessen, G. J., Dalm, V. A S H, van Dissel, J. T., van Deuren, M., Ellerbroek, P. M., van der Flier, M., van Hagen, P. M., van Montfrans, J. M., Rutgers, A., Schölvinck, E. H., de Vries, E., van Beem, R. T., Kuijpers, T. W., MS Infectieziekten, Infection & Immunity, Immuno/reuma patientenzorg, Child Health, Jonkman-Berk, B. M., van den Berg, J. M., ten Berge, I. J M, Bredius, R. G M, Driessen, G. J., Dalm, V. A S H, van Dissel, J. T., van Deuren, M., Ellerbroek, P. M., van der Flier, M., van Hagen, P. M., van Montfrans, J. M., Rutgers, A., Schölvinck, E. H., de Vries, E., van Beem, R. T., and Kuijpers, T. W.

Published
2015

32. Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening

Author

de Pagter, Anne, Bredius, RGM, Kuijpers, TW, Tramper, Jelco, van der Burg, Mirjam, van Montfrans, J, Driessen, Gertjan, de Pagter, Anne, Bredius, RGM, Kuijpers, TW, Tramper, Jelco, van der Burg, Mirjam, van Montfrans, J, and Driessen, Gertjan

Abstract

Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options. The objective of the study was to assess the morbidity, mortality, and diagnostic and therapeutic delay in children with SCID in the Netherlands in the last 15 years. These data may help to judge whether SCID should be considered to be included in our national neonatal screening program. In the period 1998-2013, 43 SCID patients were diagnosed in the Netherlands, 11 of whom were atypical SCID (presentation beyond the first year). The median interval between the first symptom and diagnosis was 2 months (range 0-1173 months). The total mortality was 42 %. In total, 32 patients were treated with HSCT of whom 8 were deceased. Nine patients died due to severe infectious complications before curative treatment could be initiated. Conclusion: Because of a high mortality of patients with SCID before HSCT could be initiated, only a national newborn screening program and pre-emptive HSCT or GT will be able to improve survival of these patients.

Published
2015

33. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

Author

Van Montfrans, J, primary, Hartman, E, additional, Braun, K, additional, Hennekam, F, additional, Hak, A, additional, Nederkoorn, P, additional, Westendorp, W, additional, Bredius, R, additional, Kollen, W, additional, Scholvinck, E, additional, Legger, G, additional, Meyts, I, additional, Liston, A, additional, Lichtenbelt, K, additional, Giltay, J, additional, Van Haaften, G, additional, De Vries Simons, G, additional, Leavis, H, additional, Nierkens, S, additional, Sanders, C, additional, and Van Gijn, M, additional

Published
2015
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35. Incipient ovarian failure and premature ovarian failure show the same immunological profile

Author

van Kasteren, YM, von Blomberg, M, Hoek, A, de Koning, C, Lambalk, N, van Montfrans, J, Kuik, J, and Reproductive Origins of Adult Health and Disease (ROAHD)

Subjects
lymphocyte subsets, endocrine system diseases, autoantibodies, ovarian failure, INFERTILE WOMEN, incipient, PERIPHERAL-BLOOD, FOLLICLE-STIMULATING-HORMONE, female genital diseases and pregnancy complications, premature, T-CELL SUBSETS, ANTIBODIES, IMMUNE-RESPONSE, AUTOIMMUNE-DISEASE, MYASTHENIA-GRAVIS, NK CELLS
Abstract

PROBLEM: Incipient ovarian failure (IOF) is characterized by regular menstrual cycles, infertility and a raised early-follicular FSH in women under 40. IOF might be a precursor or a mitigated form of premature ovarian failure (POF). Disturbances in the immune system may play a role in ovarian failure. METHOD OF STUDY: Autoantibodies and lymphocyte subsets were determined in 3 POF patients, 50 IOF patients, and 27 controls. RESULTS: The prevalence of autoantibodies did not differ between the groups. There was a statistically significant difference in lymphocyte subsets between the control group and the POF group, with the IOF group taking an intermediate position. We found a decrease in percentage of T-suppressor cells with a rise in T-helper/T-suppressor cell ratio, a decrease in natural killer cells, and an increase in B lymphocytes and HLA-DR positive T cells. CONCLUSIONS: These data support the concept that IOF is a mitigated form of POF. The question remains whether these changes are the cause or the consequence of the ovarian failure.

Published
2000

36. Multi-Institutional Experience of HSCT for DOCK8 Deficiency

Author

Albert, M.H., primary, Aydin, S., additional, Matthes-Martin, S., additional, Hoenig, M., additional, Schulz, A., additional, Steinmann, S., additional, Barlogis, V., additional, Gennery, A., additional, Ifversen, M., additional, van Montfrans, J., additional, Kuijpers, T., additional, Bredius, R., additional, Vermont, C., additional, Bittner, T., additional, Notheis, G., additional, Belohradsky, B.H., additional, Sawalle-Belohradsky, J., additional, Heinz, V., additional, Gathmann, B., additional, Ochs, H.D., additional, Renner, E.D., additional, and Gaspar, B., additional

Published
2012
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45. Spatial and temporal variability of juvenile spotted seatrout Cynoscion nebulosus growth in Chesapeake Bay.

Author

Smith, N. G., Jones, C. M., and Van Montfrans, J.

Subjects
SPOTTED seatrout, MARINE sciences, FISH research, CYNOSCION, OCEANOGRAPHY
Abstract

Juvenile spotted seatrout Cynoscion nebulosus growth in Chesapeake Bay was compared to growth from southerly estuaries to examine the potential for countergradient growth variation, and finer scale growth variation within Chesapeake Bay was investigated further. Because spawning and growing seasons in Chesapeake Bay are much shorter than in southern populations, and the bay population is genetically distinct, it was expected that C. nebulosus in Chesapeake Bay may exhibit faster juvenile growth than their southern counterparts. Within the bay, spatial and temporal growth patterns were examined using a repeated measures linear mixed-effects model on individual retrospective growth histories. Juvenile C. nebulosus were collected from seagrass beds throughout Chesapeake Bay in 1997–1999 and 2002; sagittae were removed for daily growth analysis. The calculated growth rate of 1·44 mm standard length day−1 for Chesapeake Bay fish is two to three times that reported for Florida C. nebulosus. Within the bay from 1997 to 1999 (average rainfall years), growth patterns were similar with the fastest growing fish collected from seagrass beds in the central bay, followed by the eastern shore fish with intermediate growth and western shore fish that exhibited slowest growth. These results were reversed (western shore fish growth > eastern shore > central bay) in 2002 (a drought year) even though temperatures across all years were similar throughout the bay, indicating that growth may be influenced by freshwater inflows. [ABSTRACT FROM AUTHOR]

Published
2008
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46. Basal FSH concentrations as a marker of ovarian ageing are not related to pregnancy outcome in a general population of women over 30 years.

Author

van Montfrans, J M, van Hooff, M H A, Huirne, J A, Tanahatoe, S J, Sadrezadeh, S, Martens, F, van Vugt, J M G, and Lambalk, C B

Abstract

Background: Previous studies suggest that elevated basal FSH concentrations are related to aneuploid pregnancies. However, there have been no prospective studies evaluating the incidence of aneuploidies in relation to basal FSH concentrations. Since the majority of aneuploid conceptions end in early pregnancy loss or abortion of a recognized pregnancy, these determinants are appropriate intermediate end-points to study aneuploidy.Methods: We performed a prospective study in 129 women without a history of subfertility pursuing a spontaneous pregnancy. Basal FSH concentrations were measured during three menstrual cycles. Urinary HCG levels were measured during menstruation for a maximum of six menstrual cycles, to detect early pregnancy loss. We estimated the effect of basal FSH concentrations on pregnancy outcome, taking into account possible confounders.Results: We observed no significant effect of basal FSH concentrations on the incidence of early pregnancy loss or abortion of clinically recognized pregnancies.Conclusions: We conclude that in a population of women without a history of subfertility, pursuing a spontaneous pregnancy, basal FSH concentrations are not related to the incidence of early pregnancy loss or abortions. This prospective study therefore fails to confirm a relationship between signs of decreased ovarian reserve and aneuploid pregnancies. [ABSTRACT FROM AUTHOR]

Published
2004

47. Are elevated FSH concentrations in the pre-conceptional period a risk factor for Down's syndrome pregnancies?

Author

van Montfrans, J M, Lambalk, C B, van Hooff, M H, and van Vugt, J M

Abstract

Recent publications have reported a relation between a decreased ovarian reserve and Down's syndrome pregnancies. Using the data of a case-control study into risk factors for a Down's syndrome pregnancy, we estimated the usefulness of pre-conceptional basal follicle stimulating hormone (FSH) screening (detection rate, false positive rate, positive and negative likelihood ratio, as well as the loss rate of unaffected pregnancies) to identify Down's syndrome pregnancies. The optimal detection rate of pre-conceptional basal FSH screening for Down's syndrome pregnancies was 14%, corresponding to a false positive rate of 5% and a positive likelihood ratio of 2.8. Incorporation of basal FSH screening into the regimen of first trimester serum screening followed by nuchal translucency measurement would increase the detection rate from 85 to 87%. However, basal FSH screening alone or in combination with other screening methods would cause an unacceptably high loss rate of unaffected pregnancies compared with current screening protocols, indicating that routine pre-conception basal FSH screening would not be useful to identify women at risk for a Down's syndrome pregnancy. However, when elevated basal FSH concentrations are diagnosed during subfertility evaluation, an elevated risk for a Down's syndrome pregnancy could be discussed with women who become pregnant.

Published
2001
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