Al-Mayouf Sulaiman M, Naji Hamzah, Alismail Khalid, Alazami Anas M, Sheikh Farrukh, Conca Walter, Al-Mousa Hamoud
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.
Alfaisal University, Riyadh, Saudi Arabia.
Clin Exp Rheumatol. 2017 Mar-Apr;35(2):327-329. Epub 2017 Jan 27.
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.
脂多糖反应性米色样锚定蛋白(LRBA)缺乏症会导致常见变异型免疫缺陷(CVID)疾病和自身免疫。LRBA缺乏症已成为一种临床表现多样的临床综合征。我们报告了一例与LRBA缺乏相关的慢性非侵蚀性关节炎患者。本报告强调了此类患者关节炎的范围以及LRBA基因在青少年关节炎中的潜在致病作用。