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

Autor: 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.

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. Objec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::1063404aa075699775494d1f95c140b3
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3105891

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome

Autor: Björkman, A., Du, L., van der Burg, M., Cormier-Daire, V., Borck, G., Pié, J., Anderlid, B.-M., Hammarström, L., Ström, L., de Villartay, J.-P., Kipling, D., Dunn Walters, D., Pan-Hammarström, Q.

Publikováno v: Björkman, A, Du, L, van der Burg, M, Cormier-Daire, V, Borck, G, Pié, J, Anderlid, B-M, Hammarström, L, Ström, L, Villartay, J-P D, Kipling, D, Dunn-Walters, D & Pan-Hammarström, Q 2017, ' Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome ', Journal of Allergy and Clinical Immunology . https://doi.org/10.1016/j.jaci.2017.06.043
Journal of Allergy and Clinical Immunology, 141(1), 408-+. Mosby Inc.
Zaguán. Repositorio Digital de la Universidad de Zaragoza
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To the Editor: B cells rely on a broad receptor repertoire to provide protection against a wide range of pathogens. This is in part achieved through V(D)J recombination, which, by assembling various combinations of variable (V), diversity (D), and jo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::05783221cbc125cc002e239631f52d2c
https://kclpure.kcl.ac.uk/ws/files/75504366/Reduced_immunoglobulin_gene_diversity_BJORKMAN_Publishedonline5August2017_GOLD_AAM_CC_BY_NC_ND_.pdf