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269 results on '"Bredius, R"'

1. Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation

Author

Uppugunduri, C. R. S., Huezo-Diaz Curtis, P., Nava, T., Rezgui, M. A., Mlakar, V., Mlakar, S. Jurkovic, Waespe, N., Théoret, Y., Gumy-Pause, F., Bernard, F., Chalandon, Y., Boelens, J. J., Bredius, R. G. M., Dalle, J. H., Nath, C., Corbacioglu, S., Peters, C., Bader, P., Shaw, P., Bittencourt, H., Krajinovic, M., and Ansari, M.

Published
2022
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4. Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients (vol 41, pg 1633, 2021)

Author

Hashem, H., Bucciol, G., Ozen, S., Unal, S., Bozkaya, I.O., Akarsu, N., Taskinen, M., Koskenvuo, M., Saarela, J., Dimitrova, D., Hickstein, D.D., Hsu, A.P., Holland, S.M., Krance, R., Sasa, G., Kumar, A.R., Muller, I., Sousa, M.A. de, Delafontaine, S., Moens, L., Babor, F., Barzaghi, F., Cicalese, M.P., Bredius, R., Montfrans, J. van, Baretta, V., Cesaro, S., Stepensky, P., Benedicte, N., Moshous, D., Guenno, G. le, Boutboul, D., Dalal, J., Brooks, J.P., Dokmeci, E., Dara, J., Lucas, C.L., Hambleton, S., Wilson, K., Jolles, S., Koc, Y., Gungor, T., Schnider, C., Candotti, F., Steinmann, S., Schulz, A., Chambers, C., Hershfield, M., Ombrello, A., Kanakry, J.A., and Meyts, I.

Published
2022

5. Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation

Author

Uppugunduri, C. R. S., primary, Huezo-Diaz Curtis, P., additional, Nava, T., additional, Rezgui, M. A., additional, Mlakar, V., additional, Mlakar, S. Jurkovic, additional, Waespe, N., additional, Théoret, Y., additional, Gumy-Pause, F., additional, Bernard, F., additional, Chalandon, Y., additional, Boelens, J. J., additional, Bredius, R. G. M., additional, Dalle, J. H., additional, Nath, C., additional, Corbacioglu, S., additional, Peters, C., additional, Bader, P., additional, Shaw, P., additional, Bittencourt, H., additional, Krajinovic, M., additional, and Ansari, M., additional

Published
2021
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6. Voor het eerst Nederlandse SCID-patiënt geidentificeerd met de hielprikscreening

Author

Blom, M., Berghuis, D., Clementien Vermont, Kemper, E. A., Weijman, G., Dekkers, E. H. B. M., Willem Dik, Iris Hollink, Langerak, Anton W., Bredius, R. G. M., Burg, M., Pediatrics, Immunology, and Clinical Genetics

Abstract

‘Severe combined immunodeficiency’ (SCID) is een zeldzame, ernstige afweerstoornis, waaraan diverse monogenetische gendefecten ten grondslag kunnen liggen. Kinderen met SCID ontwikkelen in de eerste levensmaanden ernstige, recidiverende infecties en zonder behandeling (zoals hematopoëtische stamceltransplantatie of gentherapie) overlijden deze patiënten meestal in het eerste levensjaar. Vroege opsporing van SCID door de detectie van ‘T-cell receptor exicison circles’ in hielprikbloed kan leiden tot een significante verbetering van overleving en verminderde morbiditeit na curatieve therapie. In Nederland is in de SONNET-studie (een prospectieve implementatiepilot) nu voor het eerst een SCID-patiënt geïdentificeerd via de hielprikscreening. De patiënt met de diagnose ‘X-linked’ SCID onderging in uitstekende klinische conditie een hematopoëtische stamceltransplantatie met vooralsnog een goede uitkomst voor de patiënt tot gevolg.

Published
2021

12. 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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38. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

Author

Farmer, J.R. Foldvari, Z. Ujhazi, B. De Ravin, S.S. Chen, K. Bleesing, J.J.H. Schuetz, C. Al-Herz, W. Abraham, R.S. Joshi, A.Y. Costa-Carvalho, B.T. Buchbinder, D. Booth, C. Reiff, A. Ferguson, P.J. Aghamohammadi, A. Abolhassani, H. Puck, J.M. Adeli, M. Cancrini, C. Palma, P. Bertaina, A. Locatelli, F. Di Matteo, G. Geha, R.S. Kanariou, M.G. Lycopoulou, L. Tzanoudaki, M. Sleasman, J.W. Parikh, S. Pinero, G. Fischer, B.M. Dbaibo, G. Unal, E. Patiroglu, T. Karakukcu, M. Al-Saad, K.K. Dilley, M.A. Pai, S.-Y. Dutmer, C.M. Gelfand, E.W. Geier, C.B. Eibl, M.M. Wolf, H.M. Henderson, L.A. Hazen, M.M. Bonfim, C. Wolska-Kuśnierz, B. Butte, M.J. Hernandez, J.D. Nicholas, S.K. Stepensky, P. Chandrakasan, S. Miano, M. Westermann-Clark, E. Goda, V. Kriván, G. Holland, S.M. Fadugba, O. Henrickson, S.E. Ozen, A. Karakoc-Aydiner, E. Baris, S. Kiykim, A. Bredius, R. Hoeger, B. Boztug, K. Pashchenko, O. Neven, B. Moshous, D. de Villartay, J.-P. Bousfiha, A.A. Hill, H.R. Notarangelo, L.D. Walter, J.E.

Subjects
hemic and lymphatic diseases
Abstract

Background: Although autoimmunity and hyperinflammation secondary to recombination activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series. Objective: Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency. Methods: In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology. Results: Diagnosis of RAG deficiency was delayed a median of 5 years from the first clinical signs of immune dysregulation. Most patients (55.6%) presented with more than 1 autoimmune or hyperinflammatory complication, with the most common etiologies being cytopenias (84.1%), granulomas (23.8%), and inflammatory skin disorders (19.0%). Infections, including live viral vaccinations, closely preceded the onset of autoimmunity in 28.6% of cases. Autoimmune cytopenias had early onset (median, 1.9, 2.1, and 2.6 years for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively) and were refractory to intravenous immunoglobulin, steroids, and rituximab in most cases (64.7%, 73.7%, and 71.4% for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively). Evans syndrome specifically was associated with lack of response to first-line therapy. Treatment-refractory autoimmunity/hyperinflammation prompted hematopoietic stem cell transplantation in 20 patients. Conclusions: Autoimmunity/hyperinflammation can be a presenting sign of RAG deficiency and should prompt further evaluation. Multilineage cytopenias are often refractory to immunosuppressive treatment and may require hematopoietic cell transplantation for definitive management. © 2019 The Authors

Published
2019

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