dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Viñas Gimenez, Laura |
dc.contributor.author | Rincon Perez, Rafael |
dc.contributor.author | Colobran Oriol, Roger |
dc.contributor.author | Celis, Verónica Paola |
dc.contributor.author | Dapena, José Luis |
dc.contributor.author | Sayos Ortega, Juan |
dc.contributor.author | Martínez Gallo, Mónica |
dc.contributor.author | De la Cruz Montserrat, Fco. Xavier |
dc.date.accessioned | 2022-03-17T09:38:42Z |
dc.date.available | 2022-03-17T09:38:42Z |
dc.date.issued | 2021-09-23 |
dc.identifier.citation | Viñas-Giménez L, Rincón R, Colobran R, de la Cruz X, Celis VP, Dapena JL, et al. Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis. Front Immunol. 2021 Sep 23;12:723836. |
dc.identifier.issn | 1664-3224 |
dc.identifier.uri | https://hdl.handle.net/11351/7198 |
dc.description | Histiocitosi de cèl·lules de Langerhans; Desgranulació; Exocitosi de grànuls lítics |
dc.description.sponsorship | This work was funded by the Instituto de Salud Carlos III, grants PI17/00660 and PI18/00346, co-financed by the European Regional Development Fund (ERDF). |
dc.language.iso | eng |
dc.publisher | Frontiers Media |
dc.relation.ispartofseries | Frontiers in Immunology;12 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Sistema limfàtic - Malalties - Aspectes genètics |
dc.subject | Immunotoxicologia |
dc.subject | Diàtesi |
dc.subject.mesh | Lymphohistiocytosis, Hemophagocytic |
dc.subject.mesh | /genetics |
dc.subject.mesh | Cytotoxicity, Immunologic |
dc.subject.mesh | Genetic Predisposition to Disease |
dc.title | Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.3389/fimmu.2021.723836 |
dc.subject.decs | linfohistiocitosis hemofagocítica |
dc.subject.decs | /genética |
dc.subject.decs | citotoxicidad inmunológica |
dc.subject.decs | predisposición genética a la enfermedad |
dc.relation.publishversion | https://doi.org/10.3389/fimmu.2021.723836 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Viñas-Giménez L, Martínez-Gallo M] Servei d’Immunologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Jeffrey Model Foundation Excellence Center, Barcelona, Spain. Grup de Recerca en Immunologia Diagnòstica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Departament de Biologia Cel·lular, Fisiologia i Immunologia Universitat Autònoma de Barcelona, Bellaterra, Spain. [Rincón R] Servei d’Immunologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Jeffrey Model Foundation Excellence Center, Barcelona, Spain. [Colobran R] Servei d’Immunologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Jeffrey Model Foundation Excellence Center, Barcelona, Spain. Grup de Recerca en Immunologia Diagnòstica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Departament de Biologia Cel·lular, Fisiologia i Immunologia Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Genètica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [de la Cruz X] Unitat de Recerca en Bioinformàtica Translacional en Neurociències, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Celis VP, Dapena JL] Hematology Department, Pediatric Cancer Center, Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain. [Sayós J] Grup de Regulació Immune i Immunoteràpia, CIBBIM-Nanomedicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain |
dc.identifier.pmid | 34630398 |
dc.identifier.wos | 000704515100001 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2013-2016/PI17%2F00660 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2013-2016/PI18%2F00346 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |