Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

Juvenile idiopathic arthritis (JIA) is a complex rheumatic disease with both autoimmune and autoinflammatory components. Recently, familial cases of systemic-onset JIA have been attributed to mutations in LACC1/FAMIN. We describe three affected siblings from a Moroccan consanguineous family with an...

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Udgivet i:Sci Rep
Main Authors: Rabionet, Raquel, Remesal, Agustín, Mensa-Vilaró, Anna, Murías, Sara, Alcobendas, Rosa, González-Roca, Eva, Ruiz-Ortiz, Estibaliz, Antón, Jordi, Iglesias, Estibaliz, Modesto, Consuelo, Comas, David, Puig, Anna, Drechsel, Oliver, Ossowski, Stephan, Yagüe, Jordi, Merino, Rosa, Estivill, Xavier, Arostegui, Juan I.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6418186/
https://ncbi.nlm.nih.gov/pubmed/30872671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-40874-2
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