Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis?
| Autor: | Sulaiman M, Al-Mayouf, Hamzah, Naji, Khalid, Alismail, Anas M, Alazami, Farrukh, Sheikh, Walter, Conca, Hamoud, Al-Mousa |
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| Rok vydání: | 2016 |
| Předmět: |
Male
Adolescent Knee Joint DNA Mutational Analysis Magnetic Resonance Imaging Arthritis Juvenile Abatacept Common Variable Immunodeficiency Phenotype Treatment Outcome Chronic Disease Mutation Humans Genetic Predisposition to Disease Arthrography Immunosuppressive Agents Adaptor Proteins Signal Transducing |
| Zdroj: | Clinical and experimental rheumatology. 35(2) |
| ISSN: | 0392-856X |
| Popis: | Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency causes common variable immunodeficiency (CVID) disorders and autoimmunity. LRBA deficiency has become a clinically variable syndrome with a wide spectrum of clinical manifestations. We report a patient with LRBA deficiency associated chronic non-erosive arthritis. This report highlights the spectrum of arthritis in such patients and the potential causative role of LRBA gene in juvenile arthritis. |
| Databáze: | OpenAIRE |
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