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1.
19 p, 3.2 MB Hematopoietic cell transplantation in severe combined immunodeficiency : The SCETIDE 2006-2014 European cohort / Lankester, Arjan C. (Pediatric Stem Cell Transplantation Program and Laboratory for Pediatric Immunology. Willem-Alexander Children's Hospital. Leiden University Medical Center) ; Neven, Benedicte (Institut Imagine. INSERM UMR1163. Laboratory of Immunogenetics of Pediatric Autoimmune Diseases) ; Mahlaoui, Nizar (French National Reference Center for Primary Immunodeficiencies (CEREDIH) and European Registry for Stem Cell Transplantation for Primary Immunodeficiencies (SCETIDE). Hôpital Universitaire Necker-Enfants malades. Assistance Publique-Hôpitaux de Paris (AP-HP)) ; von Asmuth, Erik G.J. (Pediatric Stem Cell Transplantation Program and Laboratory for Pediatric Immunology. Willem-Alexander Children's Hospital. Leiden University Medical Center) ; Courteille, Virginie (French National Reference Center for Primary Immunodeficiencies (CEREDIH) and European Registry for Stem Cell Transplantation for Primary Immunodeficiencies (SCETIDE). Hôpital Universitaire Necker-Enfants malades. Assistance Publique-Hôpitaux de Paris (AP-HP)) ; Alligon, Mikael (French National Reference Center for Primary Immunodeficiencies (CEREDIH) and European Registry for Stem Cell Transplantation for Primary Immunodeficiencies (SCETIDE). Hôpital Universitaire Necker-Enfants malades. Assistance Publique-Hôpitaux de Paris (AP-HP)) ; Albert, Michael H. (Dr von Haunersches University Children's Hospital) ; Badell Serra, Isabel (Institut d'Investigació Biomèdica Sant Pau) ; Bader, Peter (Department for Children and Adolescents Medicine. Division for Stem Cell Transplantation and Immunology. University Hospital Frankfurt) ; Balashov, Dmitry (Department for Hematopoietic Stem Cell Transplantation. Dmitriy Rogachev National Center for Pediatric Hematology. Oncology and Immunology) ; Beier, Rita (Klinik für Pädiatrische Hämatologie und Onkologie. Hannover Medical School) ; Bertrand, Yves (Institut d'Hématologie et d'Oncologie Pédiatrique. Hospices Civils de Lyon and Université Claude Bernard Lyon 1) ; Blanche, Stephane (Unité d'Immuno-hematologie et Rhumatologie Pédiatrique. Hôpital Universitaire Necker-Enfants Malades. Assistance Publique-Hôpitaux de Paris (AP-HP)) ; Bordon, Victoria (Department of Pediatric Hemato-oncology and Stem Cell Transplant. Ghent University Hospital) ; Bredius, Robert G. (Pediatric Stem Cell Transplantation Program and Laboratory for Pediatric Immunology. Willem-Alexander Children's Hospital. Leiden University Medical Center) ; Cant, Andrew (Translational and Clinical Research Institute. Newcastle University. and the Paediatric Haematopoietic Stem Cell Transplant Unit. Great North Children's Hospital) ; Cavazzana, Marina (Laboratory of Genomic Dynamics in the Immune System. Institut Imagine. INSERM UMR1163) ; Díaz de Heredia, Cristina (Vall d'Hebron Institut d'Oncologia) ; Dogu, Figen (Department of PIA and the BMT Unit. Ankara University) ; Ehlert, Karoline (Department of Pediatric Hematology and Oncology. University of Greifswald) ; Entz-Werle, Natacha (Pediatric Onco-hematology Department-Pediatrics III. University Hospital of Strasbourg) ; Fasth, Anders (Department of Pediatrics. Institute of Clinical Sciences. University of Gothenburg) ; Ferrua, Francesca (Pediatric Immunohematology and Bone Marrow Transplantation Unit and the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget). IRCCS San Raffaele Scientific Institute) ; Ferster, Alina (Department of Hemato-oncology. Hôpital Universitaire des Enfants Reine Fabiola) ; Formankova, Renata (Department of Pediatric Hematology and Oncology. Teaching Hospital Motol. 2nd Medical School. Charles University Motol) ; Friedrich, Wilhelm (Department of Pediatrics. University Medical Center Ulm) ; Gonzalez-Vicent, Marta (Hospital del Niño Jesús. Hematopoietic Stem Cell Transplantation and Cellular Therapy Unit) ; Gozdzik, Jolanta (Department of Clinical Immunology and Transplantation. Jagiellonian University Medical College) ; Güngör, Tayfun (Department of Hematology. Oncology. Immunology. Gene Therapy and Stem Cell Transplantation. and Children's Research Center (CRC). University Children's Hospital) ; Hoenig, Manfred (Department of Pediatrics. University Medical Center Ulm) ; Ikinciogullari, Aydan (Department of PIA and the BMT Unit. Ankara University) ; Kalwak, Krzysztof (Department of Pediatric Hematology. Oncology. and BMT. Wroclaw Medical University) ; Kansoy, Savas (Department of Pediatric Hematology and Oncology. Ege University Hospital) ; Kupesiz, Alphan (Department of Pediatrics. Hematology. and Oncology. Akdeniz University School of Medicine) ; Lanfranchi, Arnalda (Diagnostic Department. Stem Cell Laboratory. Section of Hematology and Blood Coagulation. Clinical Chemistry Laboratory. ASST Spedali Civili) ; Lindemans, Caroline A. (Department of Pediatrics. University Medical Center Utrecht. University of Utrecht) ; Meisel, Roland (Department of Pediatric Oncology. Hematology. and Clinical Immunology. Medical Faculty. Division of Pediatric Stem Cell Therapy. Heinrich-Heine-University) ; Michel, Gerard (Service d'Hématologie Immunologie Oncologie Pédiatrique. CHU La Timone) ; Miranda, Nuno A. A. (BMT Unit. Instituto Português de Oncologia de Lisboa) ; Moraleda, Jose (Hospital Virgen de la Arrixaca. Instituto Murciano de Investigación Biosanitaria) ; Moshous, Despina (Laboratory of Genomic Dynamics in the Immune System. Institut Imagine. INSERM UMR1163) ; Pichler, Herbert (Department of Stem Cell Transplantation. Children's Cancer Institute. St Anna Hospital) ; Rao, Kanchan (Great Ormond Street (GOS) Hospital for Children NHS Foundation Trust and University College London GOS Institute of Child Health) ; Sedlacek, Petr (Department of Pediatric Hematology and Oncology. Teaching Hospital Motol. 2nd Medical School. Charles University Motol) ; Slatter, Mary (Translational and Clinical Research Institute. Newcastle University. and the Paediatric Haematopoietic Stem Cell Transplant Unit. Great North Children's Hospital) ; Soncini, Elena (Pediatric Oncohaematology and BMT Unit. Children's Hospital Brescia) ; Speckmann, Carsten (Department of Pediatric Hematology and Oncology. Center for Pediatrics and Adolescent Medicine. Institute for Immunodeficiency. Center for Chronic Immunodeficiency (CCI). Faculty of Medicine. Medical Center. University of Freiburg) ; Sundin, Mikael (Section of Pediatric Hematology. Immunology. and HCT. Astrid Lindgren Children's Hospital. Karolinska University Hospital. and Division of Pediatrics. CLINTEC. Karolinska Institutet) ; Toren, Amos (Paediatric Hemato-oncology and BMT. Sheba Medical Center) ; Vettenranta, Kim (University of Helsinki and Children's Hospital. University of Helsinki) ; Worth, Austen (Great Ormond Street (GOS) Hospital for Children NHS Foundation Trust and University College London GOS Institute of Child Health) ; Yeşilipek, Mehmet A. (Pediatric Hematology. Oncology. and Pediatric Stem Cell Transplantation Unit. Medicalpark Antalya & Göztepe Hospitals) ; Zecca, Marco (Pediatric Hematology/Oncology. Fondazione IRCCS Policlinico San Matteo) ; Porta, Fulvio (Pediatric Oncohaematology and BMT Unit. Children's Hospital Brescia) ; Schulz, Ansgar (Department of Pediatrics. University Medical Center Ulm) ; Veys, Paul (Great Ormond Street (GOS) Hospital for Children NHS Foundation Trust and University College London GOS Institute of Child Health) ; Fischer, Alain (Université de Paris) ; Gennery, Andrew R. (Translational and Clinical Research Institute. Newcastle University. and the Paediatric Haematopoietic Stem Cell Transplant Unit. Great North Children's Hospital)
Background: Hematopoietic stem cell transplantation (HSCT) represents a curative treatment for patients with severe combined immunodeficiency (SCID), a group of monogenic immune disorders with an otherwise fatal outcome. [...]
2022 - 10.1016/j.jaci.2021.10.017
The Journal of Allergy and Clinical Immunology, Vol. 149 Núm. 5 (may 2022) , p. 1744-1754.e8  
Registre complet - Creative Commons
2.
17 p, 2.5 MB Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction / Català-Moll, Francesc (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Ferreté-Bonastre, Anna G. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Li, Tianlu (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Weichenhan, Dieter (German Cancer Research Center (DKFZ)) ; Lutsik, Pavlo (German Cancer Research Center (DKFZ)) ; Ciudad, Laura (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Álvarez-Prado, Ángel F. (Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares) ; Rodríguez-Ubreva, Javier (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Klemann, Christian (University of Freiburg) ; Speckmann, Carsten (University of Freiburg) ; Vilas-Zornoza, Amaya (Universidad de Navarra) ; Abolhassani, Hassan (Karolinska University) ; Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron) ; Dieli-Crimi, Romina (Hospital Universitari Vall d'Hebron) ; Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Colobrán Oriol, Roger (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Kracker, Sven (Universite de Paris) ; Hammarström, Lennart (Karolinska University) ; Prosper, Felipe (Universidad de Navarra) ; Durandy, Anne (Universite de Paris) ; Grimbacher, Bodo (University of Freiburg) ; Plass, Christoph (German Cancer Research Center (DKFZ)) ; Ballestar, Esteban (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Activation-induced deaminase (AID) initiates antibody diversification in germinal center B cells by deaminating cytosines, leading to somatic hypermutation and class-switch recombination. Loss-of-function mutations in AID lead to hyper-IgM syndrome type 2 (HIGM2), a rare human primary antibody deficiency. [...]
2021 - 10.1093/nar/gkab322
Nucleic acids research, Vol. 49, Issue 9 (May 2021) , p. 5057-5073  
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