dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Franco Jarava, Clara |
dc.contributor.author | Valenzuela Palafoll, Ma Irene |
dc.contributor.author | Rivière, Jacques |
dc.contributor.author | García Prat, Marina |
dc.contributor.author | Dieli Crimi, Romina |
dc.contributor.author | Castells Sarret, Neus |
dc.contributor.author | Batlle Masó, Laura |
dc.contributor.author | Soler Palacín, Pere |
dc.contributor.author | Colobran Oriol, Roger |
dc.contributor.author | Martínez Gallo, Mónica |
dc.date.accessioned | 2022-09-13T09:27:08Z |
dc.date.available | 2022-09-13T09:27:08Z |
dc.date.issued | 2022-06-17 |
dc.identifier.citation | Franco-Jarava C, Valenzuela I, Riviere JG, Garcia-Prat M, Martínez-Gallo M, Dieli-Crimi R, et al. Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report. Front Immunol. 2022 Jun 17;13:897975. |
dc.identifier.issn | 1664-3224 |
dc.identifier.uri | https://hdl.handle.net/11351/8176 |
dc.description | Reordenacions cromosòmiques; Immunodeficiències primàries; Immunodeficiències sindròmiques |
dc.description.sponsorship | This study was funded by Instituto de Salud Carlos III, grants PI17/00660 and PI20/00761, cofinanced by the European Regional Development Fund (ERDF). This study was also funded by the Jeffrey Modell Foundation. This work is supported by the European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases Network (ERN-RITA). |
dc.language.iso | eng |
dc.publisher | Frontiers Media |
dc.relation.ispartofseries | Frontiers in Immunology;13 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Anomalies cromosòmiques |
dc.subject | Síndromes de deficiència immunitària - Aspectes genètics |
dc.subject.mesh | Common Variable Immunodeficiency |
dc.subject.mesh | Immunologic Deficiency Syndromes |
dc.subject.mesh | Chromosome Aberrations |
dc.title | Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.3389/fimmu.2022.897975 |
dc.subject.decs | inmunodeficiencia variable común |
dc.subject.decs | síndromes de inmunodeficiencia |
dc.subject.decs | aberraciones cromosómicas |
dc.relation.publishversion | https://doi.org/10.3389/fimmu.2022.897975 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Franco-Jarava C, Martínez-Gallo M, Dieli-Crimi R] Divisió d’Immunologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Grup de Recerca Traslacional en Immunologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain. [Valenzuela I, Castells N] Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Riviere JG, Garcia-Prat M, Soler-Palacin P] Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain. Grup de Recerca d’Infecció en el Pacient Pediàtric Immunodeprimit, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Batlle-Masó L] Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain. Grup de Recerca d’Infecció en el Pacient Pediàtric Immunodeprimit, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Colobran R] Divisió d’Immunologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Grup de Recerca Traslacional en Immunologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain. Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain |
dc.identifier.pmid | 35784294 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2013-2016/PI17%2F00660 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2017-2020/PI20%2F00761 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |