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, 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	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.citation	1546-0096
dc.identifier.citation	http://dx.doi.org/10.1186/1546-0096-13-S1-O76
dc.identifier.uri	http://hdl.handle.net/10230/27007
dc.format	application/pdf
dc.language.iso	eng
dc.publisher	BioMed Central
dc.relation	Pediatric Rheumatology. 2015; 13(Suppl. 1): O76
dc.rights	info:eu-repo/semantics/openAccess
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	http://creativecommons.org/licenses/by/4.0/
dc.subject	Artritis
dc.subject	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.type	info:eu-repo/semantics/publishedVersion
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

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