Division of Pediatric Rheumatology, Sri Ramachandra Institute of Higher Education and Research, Chennai, India. Correspondence to: Dr Mahesh Janarthanan, Division of Pediatric Rheumatology, Department of Pediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, India.
Department of Pediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, India.
Indian Pediatr. 2019 May 15;56(5):423-425.
X-linked agammaglobulinemia, a primary immunodeficiency, can present with musculoskeletal manifestations.
A 4-year-old boy, diagnosed as systemic juvenile idiopathic arthritis at the age of 3 years and treated with biological agents, presented with fever, dyspnea and chest pain. Blood culture and pericardial fluid culture revealed Achromobacter xylosoxidans.
Investigation revealed normal serum ferritin but low levels of serum immunoglobulins. Further immunological work-up revealed diagnosis of X-linked agammaglobulinemia. Child improved on antibiotic therapy; treatment with steroids and biological was discontinued.
Underlying immunodeficiency disease must be looked for in children suspected to have juvenile arthritis, more so if they develop unusual serious infection in response to immunomodulatory therapy.
X 连锁无丙种球蛋白血症是一种原发性免疫缺陷病，可表现出肌肉骨骼方面的症状。
一名 4 岁男孩，3 岁时被诊断为全身型幼年特发性关节炎，曾接受生物制剂治疗，因发热、呼吸困难和胸痛就诊。血培养和心包液培养显示嗜木糖阿克曼菌。
检查发现血清铁蛋白正常，但血清免疫球蛋白水平较低。进一步的免疫学检查结果显示为 X 连锁无丙种球蛋白血症。患儿经抗生素治疗后病情好转，停用了类固醇和生物制剂治疗。
对于疑似患有幼年特发性关节炎的儿童，如果他们在免疫调节治疗后出现异常严重的感染，必须寻找潜在的免疫缺陷病。
