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4 p, 256.4 KB |
Hemadsorption as a Treatment Option for Multisystem Inflammatory Syndrome in Children Associated With COVID-19. A Case Report
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Ruiz-Rodríguez, Juan Carlos (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Chiscano-Camón, Luis (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Palmada, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ruiz-Sanmartin, Adolf (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
García-de-Acilu, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Plata-Menchaca, Erika (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Perurena-Prieto, Janire (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Hernandez-Gonzalez, Manuel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Pérez-Carrasco, Marcos (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ferrer, Ricard (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Multisystem Inflammatory Syndrome in Children (MIS-C) associated with COVID-19 is characterized by hypercytokinemia leading to overwhelming inflammation. We describe the use of a hemadsorption device as part of the supportive treatment for cytokine storm.
2021 -  10.3389/fimmu.2021.665824
Frontiers in immunology, Vol. 12 (june 2021)
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18 p, 449.2 KB |
Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β
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Vinh, Donald C. (McGill University Health Centre) ;
Abel, Laurent (University of Paris) ;
Bastard, Paul (University of Paris) ;
Cheng, Matthew P. (McGill University Health Centre) ;
Condino-Neto, Antonio (University of São Paulo) ;
Gregersen, Peter K. (Feinstein Institute for Medical Research) ;
Haerynck, Filomeen (Universitair Ziekenhuis Gent) ;
Cicalese, Maria-Pia (San Raffaele Telethon Institute for Gene Therapy) ;
Hagin, David (Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Planas, Anna M. (IIBB-CSIC) ;
Pujol, Aurora (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Notarangelo, Luigi D. (National Institutes of Health (Estats Units d'Amèrica)) ;
Zhang, Qian (Rockefeller University (Estats Units d'Amèrica)) ;
Su, Helen C. (National Institutes of Health (Estats Units d'Amèrica)) ;
Casanova, Jean-Laurent (Howard Hughes Medical Institute) ;
Meyts, Isabelle (Laboratory for Inborn Errors of Immunity) ;
Universitat Autònoma de Barcelona
2021 - 10.1007/s10875-021-01068-6
Journal of Clinical Immunology, june 2021, p. 1-18
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3.
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1.2 MB |
LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy
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Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rivière, Jacques G. (Jeffrey Modell Foundation Excellence Center) ;
Plaja, Alberto (Hospital Universitari Vall d'Hebron) ;
Bezdan, Daniela (Universitat Pompeu Fabra) ;
Bosio, Mattia (Universitat Pompeu Fabra) ;
Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ossowski, Stephan (Institute of Medical Genetics and Applied Genomics, University of Tübingen) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations in the LRBA gene (OMIM #614700). It was initially characterized as producing early-onset hypogammaglobulinemia, autoimmune manifestations, susceptibility to inflammatory bowel disease, and recurrent infection. [...]
2018 - 10.3389/fimmu.2018.02397
Frontiers in immunology, Vol. 9 (october 2018)
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15 p, 939.3 KB |
Evaluating the Genetics of Common Variable Immunodeficiency : Monogenetic Model and Beyond
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de Valles-Ibáñez, Guillem (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Esteve-Solé, Ana (Hospital Clínic i Provincial de Barcelona) ;
Piquer, Mònica (Hospital Clínic i Provincial de Barcelona) ;
González-Navarro, E. Azucena (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Hernandez-Rodriguez, Jessica (Universitat Pompeu Fabra) ;
Laayouni, Hafid (Universitat Pompeu Fabra) ;
González-Roca, Eva (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Plaza-Martin, Ana María (Hospital Clínic i Provincial de Barcelona) ;
Deyà-Martínez, Ángela (Hospital Clínic i Provincial de Barcelona) ;
Martín-Nalda, Andrea (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ;
Martínez Gallo, Mónica (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Garcia-Prat, Marina (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ;
del Pino-Molina, Lucía (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Cusco, Ivon (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Codina-Solà, Marta (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Batlle-Masó, Laura (Universitat Pompeu Fabra) ;
Solís-Moruno, Manuel (Universitat Pompeu Fabra) ;
Marquès-Bonet, Tomàs (Barcelona Institute of Science and Technology (BIST)) ;
Bosch, Elena (Universitat Pompeu Fabra) ;
López-Granados, Eduardo (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Aróstegui, Juan Ignacio (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Soler-Palacín, Pere (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ;
Colobrán Oriol, Roger (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Yagüe, Jordi (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Alsina, Laia (Hospital Clínic i Provincial de Barcelona) ;
Juan, Manel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Casals, Ferran (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut)
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological criteria, after exclusion of other diseases that can cause similar phenotypes. [...]
2018 - 10.3389/fimmu.2018.00636
Frontiers in immunology, Vol. 9 (may 2018)
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14 p, 441.8 KB |
Clinical Outcomes of a Zika Virus Mother-Child Pair Cohort in Spain
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Soriano-Arandes, Antoni (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Frick, Marie Antoinette (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
García López-Hortelano, Milagros (Hospital Universitario La Paz) ;
Sulleiro, Elena (Hospital Universitari Vall d'Hebron) ;
Rodó, Carlota (Hospital Universitari Vall d'Hebron) ;
Sánchez-Seco, María Paz (Instituto de Salud Carlos III) ;
Cabrera-Lafuente, Marta (Hospital Universitario La Paz) ;
Suy, Anna (Hospital Universitari Vall d'Hebron) ;
De la Calle, María (Hospital Universitario La Paz) ;
Santos, Mar (Hospital General Universitario Gregorio Marañón) ;
Antolin, Eugenia (Hospital Universitario La Paz) ;
Viñuela, María del Carmen (Hospital General Universitario Gregorio Marañón) ;
Espiau, María (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Salazar, Ainara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Guarch-Ibáñez, Borja (Hospital Universitari de Girona Doctor Josep Trueta) ;
Vázquez, Ana (Instituto de Salud Carlos III) ;
Navarro-Morón, Juan (Hospital Costa del Sol (Marbella)) ;
Ramos-Amador, José-Tomás (Hospital Clínico San Carlos) ;
Martin-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Dueñas, Eva (Hospital General Universitario Gregorio Marañón) ;
Blázquez-Gamero, Daniel (Instituto de Investigación Sanitaria Hospital 12 de Octubre) ;
Reques-Cosme, Resurrección (Hospital El Escorial) ;
Olabarrieta, Iciar (Hospital Universitario Severo Ochoa) ;
Prieto, Luis (Instituto de Investigación Sanitaria Hospital 12 de Octubre) ;
De Ory, Fernando (Instituto de Salud Carlos III) ;
Thorne, Claire (University College London Great Ormond Street Institute of Child Health, GOSH NIHR BRC, London WC1N 1EH, UK; (C.T.); (T.B.); (E.R.-B.)) ;
Byrne, Thomas (University College London Great Ormond Street Institute of Child Health, GOSH NIHR BRC, London WC1N 1EH, UK; (C.T.); (T.B.); (E.R.-B.)) ;
Ades, Anthony E. (University of Bristol, Bristol BS9 1AF, UK) ;
Ruiz-Burga, Elisa (University College London Great Ormond Street Institute of Child Health) ;
Giaquinto, Carlo (University of Padova) ;
Garcia-Alix, Alfredo (Fundació NeNe (Madrid)) ;
Carreras Moratonas, Elena (Hospital Universitari Vall d'Hebron) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Background: Zika virus (ZIKV) infection has been associated with congenital microcephaly and other neurodevelopmental abnormalities. There is little published research on the effect of maternal ZIKV infection in a non-endemic European region. [...]
2020 - 10.3390/pathogens9050352
Pathogens, Vol. 9 (may 2020)
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15 p, 3.0 MB |
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia
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Zielen, Stefan (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Duecker, Ruth Pia (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Woelke, Sandra (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Donath, Helena (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Bakhtiar, Sharhzad (Goethe University. Division for Stem Cell Transplantation, Immunology and Intensive Care Unit) ;
Buecker, Aileen (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Kreyenberg, Hermann (Goethe University. Division for Stem Cell Transplantation, Immunology and Intensive Care Unit) ;
Huenecke, Sabine (Goethe University. Division for Stem Cell Transplantation, Immunology and Intensive Care Unit) ;
Bader, Peter (Goethe University. Division for Stem Cell Transplantation, Immunology and Intensive Care Unit) ;
Mahlaoui, Nizar (Necker Children's University Hospital. Pediatric Immunology-Hematology and Rheumatology Unit) ;
Ehl, Stephan (University of Freiburg. Institute for Immunodeficiency) ;
El-Helou, Sabine M. (Hannover Medical School. Department of Rheumatology and Immunology) ;
Pietrucha, Barbara (The Children's Memorial Health Institute. Department of Immunology) ;
Plebani, Alessandro (University of Brescia. Department of Clinical and Experimental Sciences) ;
van der Flier, Michiel (Radboud University Medical Center. Section Pediatric Infectious Diseases) ;
van Aerde, Koen (Radboud University Medical Center. Department of Pediatrics) ;
Kilic, Sara S. (Uludag University. Department of Pediatric Immunology and Rheumatology) ;
Reda, Shereen M. (Ain Shams University. Department of Pediatrics) ;
Kostyuchenko, Larysa (Western Ukrainian Specialized Children's Medical Centre) ;
McDermott, Elizabeth (Nottingham University Hospitals. Clinical Immunology and Allergy Unit) ;
Galal, Nermeen (Cairo University Specialized Pediatric Hospital. Department of Pediatrics) ;
Pignata, Claudio (Federico II University. Department of Translational Medical Sciences) ;
Santos-Pérez, Juan Luis (Hospital Universitario Virgen de las Nieves (Granada)) ;
Laws, Hans-Juergen (Heinrich-Heine University. Department of Pediatric Oncology, Hematology and Clinical Immunology) ;
Niehues, Tim (Centre for Child and Adolescent Health (Krefeld, Germany)) ;
Kutukculer, Necil (Ege University. Department of Pediatric Immunology) ;
Seidel, Markus G. (Medical University Graz. Department of Pediatrics and Adolescent Medicine) ;
Marques, Laura (Porto Hospital Center. Pediatric Department) ;
Ciznar, Peter (Comenius University in Bratislava. Pediatric Department) ;
Edgar, John David M. (The Royal Hospitals & Queen's University) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
von Bernuth, Horst (Charité - Universitätsmedizin Berlin. Berlin Center for Regenerative Therapies) ;
Krueger, Renate (Charité - Universitätsmedizin Berlin. Department of Pediatric Pneumology, Immunology and Intensive Care) ;
Meyts, Isabelle (University Hospitals Leuven (Bèlgica)) ;
Baumann, Ulrich (Hannover Medical School. Department of Paediatric Pulmonology, Allergy and Neonatology) ;
Kanariou, Maria ("Aghia Sophia" Children's Hospital. Department of Immunology and Histocompatibility) ;
Grimbacher, Bodo (Albert-Ludwigs University) ;
Hauck, Fabian (Ludwig-Maximilians-University Munich. Department of Pediatrics) ;
Graf, Dagmar (MVZ Dr. Reising-Ackermann Und Kollegen (Leipzig, Germany)) ;
Granado, Luis Ignacio Gonzalez (Universidad Complutense de Madrid) ;
Prader, Seraina (University Children's Hospital Zurich. Division of Immunology and Children's Research Center) ;
Reisli, Ismail (Necmettin Erbakan University. Department of Pediatrics) ;
Slatter, Mary (Newcastle University. Primary Immunodeficiency Group, Paediatric Immunology and Haematopoietic Stem Cell Transplantation) ;
Rodríguez-Gallego, Carlos (University Fernando Pessoa Canarias. Department of Immunology) ;
Arkwright, Peter D. (University of Manchester. Lydia Becker Institute of Immunology and Inflammation) ;
Bethune, Claire (University Hospitals Plymouth NHS Trust (Regne Unit)) ;
Deripapa, Elena (National Medical Research Center of Pediatric Hematology, Oncology and Immunology (Moscow, Russia)) ;
Sharapova, Svetlana O. (Belarusian Research Center for Pediatric Oncology, Hematology and Immunology. Research Department) ;
Lehmberg, Kai (University Medical Center Hamburg-Eppendorf. Division for Pediatric Stem Cell Transplantation and Immunology) ;
Davies, E. Graham (Great Ormond Street Hospital for Children (Londres)) ;
Schuetz, Catharina (Technische Universität Dresden. Department of Pediatrics) ;
Kindle, Gerhard (University of Freiburg. FREEZE Biobank) ;
Schubert, Ralf (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Universitat Autònoma de Barcelona
Patients with ataxia-telangiectasia (A-T) sufer from progressive cerebellar ataxia, immunodefciency, respiratory failure, and cancer susceptibility. From a clinical point of view, A-T patients with IgA defciency show more symptoms and may have a poorer prognosis. [...]
2021 - 10.1007/s10875-021-01090-8
Journal of Clinical Immunology, Vol. 41 (september 2021) , p. 1878-1892
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9 p, 1.2 MB |
Newborn Screening for SCID. Experience in Spain (Catalonia)
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Argudo-Ramírez, Ana (Hospital Clínic i Provincial de Barcelona) ;
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron) ;
González de Aledo-Castillo, Jose Manuel (Hospital Clínic i Provincial de Barcelona) ;
López-Galera, Rosa (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Marín-Soria, Jose Luis (Hospital Clínic i Provincial de Barcelona) ;
Pajares-García, Sonia (Spain Center for Biomedical Research Network on Rare Diseases) ;
Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Riviere, Jacques G. (Hospital Universitari Vall d'Hebron) ;
Quintero, Yania (Hospital Clínic i Provincial de Barcelona) ;
Collado, Tatiana (Hospital Clínic i Provincial de Barcelona) ;
Ribes, Antonia (Spain Center for Biomedical Research Network on Rare Diseases) ;
García-Villoria, Judit (Spain Center for Biomedical Research Network on Rare Diseases) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing. In Spain, a pilot study with 5000 samples was carried out in Seville in 2014; also, a research project with about 35,000 newborns will be carried out in 2021-2022 in the NBS laboratory of Eastern Andalusia. [...]
2021 - 10.3390/ijns7030046
International Journal of Neonatal Screening, Vol. 7 (july 2021)
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17 p, 555.8 KB |
Voriconazole Use in Children : Therapeutic Drug Monitoring and Control of Inflammation as Key Points for Optimal Treatment
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Valle-T-Figueras, José María (Institut d'Investigació Biomèdica Sant Pau) ;
Renedo-Miró, Berta (Hospital Universitari Vall d'Hebron) ;
Benítez Carabante, Maria Isabel (Hospital Universitari Vall d'Hebron) ;
Díaz de Heredia, Cristina (Hospital Universitari Vall d'Hebron) ;
Vima Bofarull, Jaume (Hospital Universitari Vall d'Hebron) ;
Mendoza-Palomar, Natalia Ana (Hospital Universitari Vall d'Hebron) ;
Martin-Gomez, M. Teresa (Hospital Universitari Vall d'Hebron) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
Voriconazole plasma concentrations (PC) are highly variable, particularly in children. Dose recommendations in 2-12-year-old patients changed in 2012. Little data on therapeutic drug monitoring (TDM) after these new recommendations are available. [...]
2021 - 10.3390/jof7060456
Journal of Fungi, Vol. 7 (june 2021)
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17 p, 2.5 MB |
Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction
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Català-Moll, Francesc (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Ferreté-Bonastre, Anna G (Josep Carreras Research Institute (IJC)) ;
Li, Tianlu (Josep Carreras Research Institute (IJC)) ;
Weichenhan, Dieter (German Cancer Research Center (DKFZ)) ;
Lutsik, Pavlo (German Cancer Research Center (DKFZ)) ;
Ciudad, Laura (Josep Carreras Research Institute (IJC)) ;
Álvarez-Prado, Ángel F (Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC)) ;
Rodríguez-Ubreva, Javier (Josep Carreras Research Institute (IJC)) ;
Klemann, Christian (University of Freiburg) ;
Speckmann, Carsten (University of Freiburg) ;
Vilas-Zornoza, Amaya (Universitat 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 (Universitat de Navarra) ;
Durandy, Anne (Universite de Paris) ;
Grimbacher, Bodo (University of Freiburg) ;
Plass, Christoph (German Cancer Research Center (DKFZ)) ;
Ballestar, Esteban (Josep Carreras Research Institute (IJC))
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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