Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis?

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 as...

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Veröffentlicht in:	Clinical and experimental rheumatology 2017-03, Vol.35 (2), p.327-329
Hauptverfasser:	Al-Mayouf, Sulaiman M, Naji, Hamzah, Alismail, Khalid, Alazami, Anas M, Sheikh, Farrukh, Conca, Walter, Al-Mousa, Hamoud
Format:	Artikel
Sprache:	eng
Schlagworte:	Abatacept - administration & dosage Adaptor Proteins, Signal Transducing - deficiency Adaptor Proteins, Signal Transducing - genetics Adaptor Proteins, Signal Transducing - immunology Adolescent Arthritis, Juvenile - diagnosis Arthritis, Juvenile - drug therapy Arthritis, Juvenile - genetics Arthritis, Juvenile - immunology Arthrography Chronic Disease Common Variable Immunodeficiency - diagnosis Common Variable Immunodeficiency - drug therapy Common Variable Immunodeficiency - genetics Common Variable Immunodeficiency - immunology DNA Mutational Analysis Genetic Predisposition to Disease Humans Immunosuppressive Agents - administration & dosage Knee Joint - diagnostic imaging Magnetic Resonance Imaging Male Mutation Phenotype Treatment Outcome
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Zusammenfassung:	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.
ISSN:	0392-856X