Sordet Christelle, Cantagrel Alain, Schaeverbeke Thierry, Sibilia Jean
Service de Rhumatologie, CHU de Strasbourg, France.
Joint Bone Spine. 2005 Dec;72(6):503-14. doi: 10.1016/j.jbspin.2004.07.012.
Primary immune deficiencies (PIDs) are characterized by functional and/or quantitative abnormalities of one or more immune system components. Several bone and joint abnormalities can occur in patients with PID, with arthritis being the most common. Joint manifestations, of which arthritis is the most common, occur chiefly in humoral PIDs (agammaglobulinemia, common variable immunodeficiency, hyper-IgM syndromes, and IgA deficiency) and occasionally in other PIDs (chronic granulomatous disease and Wiskott-Aldrich syndrome). Monoarthritis or oligoarthritis is the usual pattern, although polyarthritis may occur, occasionally with nodules suggesting rheumatoid arthritis. Arthritis in patients with PID is usually infectious in nature, the most common causative organism being Mycoplasma, followed by Staphylococcus, Streptococcus, and Haemophilus. These bacteria can induce not only synovial infections, but also aseptic arthritogenic inflammatory responses. Arthritis having no demonstrable relation to chronic infection has been reported also and ascribed to dysimmunity-driven mechanisms that exhibit a number of specific features. Bone lesions are far less common and usually due to infections complicating humoral PID. Distinctive bone manifestations occur in a number of rare PIDs (e.g., hyper-IgE syndrome and Di George syndrome) and in syndromes characterized by spondyloepiphyseal dysplasia. Familiarity with PID syndromes both enhances the diagnostic capabilities of physicians and provides insight into the pathophysiology of bone and joint abnormalities associated with immune dysfunction. In children and occasionally in adults, a combination of bone and/or joint manifestations and hypogammaglobulinemia may indicate PID. When there is no evidence of lymphoproliferative disease, infection, or iatrogenic complications, investigations for PID should be obtained. PID-related arthritis is a unique model for studying the pathogenesis of presumably postinfectious arthritis and of inflammatory joint diseases including rheumatoid arthritis.
原发性免疫缺陷病（PID）的特征是一个或多个免疫系统成分存在功能和/或数量异常。PID患者可能出现多种骨骼和关节异常，其中关节炎最为常见。关节表现以关节炎最为常见，主要发生在体液免疫缺陷病（无丙种球蛋白血症、常见变异型免疫缺陷病、高IgM综合征和IgA缺乏症），偶尔也出现在其他免疫缺陷病（慢性肉芽肿病和威斯科特-奥尔德里奇综合征）中。通常表现为单关节炎或寡关节炎，不过也可能出现多关节炎，偶尔伴有提示类风湿关节炎的结节。PID患者的关节炎通常由感染引起，最常见的病原体是支原体，其次是葡萄球菌、链球菌和嗜血杆菌。这些细菌不仅可诱发滑膜感染，还可引发无菌性关节炎性炎症反应。也有报道称存在与慢性感染无明显关联的关节炎，其归因于具有一些特定特征的免疫失调驱动机制。骨病变则远没有那么常见，通常是由体液免疫缺陷病并发感染所致。一些罕见的免疫缺陷病（如高IgE综合征和迪乔治综合征）以及以脊椎骨骺发育不良为特征的综合征会出现独特的骨骼表现。熟悉免疫缺陷病综合征既能提高医生的诊断能力，又有助于深入了解与免疫功能障碍相关的骨骼和关节异常的病理生理学。在儿童以及偶尔在成人中，骨骼和/或关节表现与低丙种球蛋白血症相结合可能提示免疫缺陷病。当没有淋巴细胞增殖性疾病、感染或医源性并发症的证据时，应进行免疫缺陷病的相关检查。与免疫缺陷病相关的关节炎是研究推测的感染后关节炎以及包括类风湿关节炎在内的炎性关节疾病发病机制的独特模型。
