title: Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis?
abstract: 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.
authors.affiliation: Dept.of Paediatrics, Rheumatology; Dept.of Paediatrics, Allergy & Immunology; Dept.of Medicine, Allergy & Immunology; Dept.of Medicine, Rheumatology; Dept.of Genetics; Dept.of Radiology, King Faisal Specialist Hosp.and Res. Centre, Riyadh, Saudi Arabia.
authors.forename: Sulaiman M
authors.initials: SM
authors.lastname: Al-Mayouf
authors.affiliation: Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Hamzah
authors.initials: H
authors.lastname: Naji
authors.affiliation: Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: Khalid
authors.initials: K
authors.lastname: Alismail
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: Anas M
authors.initials: AM
authors.lastname: Alazami
authors.affiliation: Department of Medicine, Allergy and Immunology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: Farrukh
authors.initials: F
authors.lastname: Sheikh
authors.affiliation: Department of Medicine, Rheumatology, King Faisal Specialist Hospital and Research Centre; and Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Walter
authors.initials: W
authors.lastname: Conca
authors.affiliation: Department of Paediatrics, Allergy and Immunology, King Faisal Specialist Hospital and Research Centre; and Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Hamoud
authors.initials: H
authors.lastname: Al-Mousa
mesh_terms: D000069594:Abatacept / Q000008:administration & dosage; D048868:Adaptor Proteins, Signal Transducing / Q000172:deficiency / Q000235:genetics* / Q000276:immunology; D000293:Adolescent; D001171:Arthritis, Juvenile / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D001175:Arthrography; D002908:Chronic Disease; D017074:Common Variable Immunodeficiency / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D007166:Immunosuppressive Agents / Q000008:administration & dosage; D007719:Knee Joint / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010641:Phenotype; D016896:Treatment Outcome
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D007166:Immunosuppressive Agents; D000069594:Abatacept; C428703:LRBA protein, human