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A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis

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dc.contributor.author Aróstegui Gorospe, Juan Ignacio
dc.contributor.author Rabionet, Raquel
dc.contributor.author Remesal, Agustín
dc.contributor.author Mensa Vilaró, Anna
dc.contributor.author Murias, Sara
dc.contributor.author Alcobendas, Rosa
dc.contributor.author González-Roca, Eva
dc.contributor.author Dreschsel, Oliver
dc.contributor.author Ruíz Ortiz, Estíbaliz
dc.contributor.author Puig, Anna
dc.contributor.author Comas, David, 1969-
dc.contributor.author Ossowski, Stephan
dc.contributor.author Yagüe, Jordi L.
dc.contributor.author Estivill, Xavier, 1955-
dc.contributor.author Merino, Rosa
dc.date.accessioned 2016-07-06T14:27:17Z
dc.date.available 2016-07-06T14:27:17Z
dc.date.issued 2015
dc.identifier.citation Arostegui JI, Rabionet R, Remesal A, Mensa-Vilaro A, Murias S, Alcobendas R et al. A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis. Pediatric Rheumatology. 2015;13(Suppl. 1):O76. DOI: 10.1186/1546-0096-13-S1-O76
dc.identifier.issn 1546-0096
dc.identifier.uri http://hdl.handle.net/10230/27007
dc.description.abstract We identified a consanguineous Moroccan family with three affected siblings diagnosed with rheumatoid factor-negative polyarticular juvenile idiopathic arthritis. They all suffered from an early-onset (2-4 years-old) chronic and symmetric polyarthritis affecting both large and small joints. The joint involvement was markedly erosive in two siblings, with the older sister requiring hip prosthetic replacement at the age of 18 years. None of the patients had fever, skin rash, uveitis or other extra-articular manifestations. Laboratory analyses revealed leukocytosis, thrombocytosis, severe anaemia, marked increase of inflammatory markers and negative results for rheumatoid factor, anti-nuclear antibodies and HLA-B27
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher BioMed Central
dc.relation.ispartof Pediatric Rheumatology. 2015;13(Suppl. 1):O76
dc.rights © 2015 Arostegui et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided theoriginal work is properly cited.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.subject.other Artritis
dc.subject.other Genètica
dc.title A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1186/1546-0096-13-S1-O76
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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