Abstract：
Primary immunodeficiency Disorders (PIDS) are rare, mostly monogenetic conditions which can present to a number of specialties. Although infections predominate in most PIDs, some individuals can manifest autoimmune or inflammatory sequelae as their initial clinical presentation. Identifying patients with PIDs can be challenging, as some can present later in life. This is often seen in patients with Common Variable Immunodeficiency Disorders (CVID), where symptoms can begin in the sixth or even seventh decades of life. Some patients with PIDs including CVID can initially present to rheumatologists with autoimmune musculoskeletal manifestations. It is imperative for these patients to be identified promptly as immunosuppression could lead to life-threatening opportunistic infections in these immunocompromised individuals. These risks could be mitigated by prior treatment with subcutaneous or intravenous (SCIG/IVIG) immunoglobulin replacement or prophylactic antibiotics. Importantly, many of these disorders have an underlying genetic defect. Individualized treatments may be available for the specific mutation, which may obviate or mitigate the need for hazardous broad-spectrum immunosuppression. Identification of the genetic defect has profound implications not only for the patient but also for affected family members, who may be at risk of symptomatic disease following an environmental trigger such as a viral infection. Finally, there may be clinical clues to the underlying PID, such as recurrent infections, the early presentation of severe or multiple autoimmune disorders, as well as a relevant family history. Early referral to a clinical immunologist will facilitate appropriate diagnostic evaluation and institution of treatment such as SCIG/IVIG immunoglobulin replacement. This review comprises three sections; an overview of PIDs, focusing on CVID, secondly genetic testing of PIDs and finally the clinical presentation of these disorders to rheumatologists.
摘要：
原发性免疫缺陷疾病（PIDS）很少见，主要是单基因条件，可以呈现给许多专业。尽管感染在大多数PID中占主导地位，一些个体可以表现出自身免疫或炎症后遗症作为他们最初的临床表现。识别患有PID的患者可能具有挑战性，有些人可以在以后的生活中出现。这常见于常见的可变免疫缺陷障碍（CVID）患者，症状可以在生命的第六甚至第七十年开始。一些患有包括CVID的PID的患者最初可以向风湿病学家呈现自身免疫性肌肉骨骼表现。必须及时鉴定这些患者，因为免疫抑制可能导致这些免疫受损个体中危及生命的机会性感染。这些风险可以通过皮下或静脉内（SCIG/IVIG）免疫球蛋白替代或预防性抗生素的预先治疗来减轻。重要的是,许多这些疾病都有潜在的遗传缺陷。个体化治疗可用于特定的突变，这可以消除或减轻对危险的广谱免疫抑制的需要。遗传缺陷的鉴定不仅对患者而且对受影响的家庭成员都具有深远的意义。在环境触发如病毒感染后可能有症状疾病的风险。最后,潜在的PID可能有临床线索，如反复感染，严重或多发性自身免疫性疾病的早期表现，以及相关的家族史。早期转诊至临床免疫学家将有助于适当的诊断评估和治疗机构，例如SCIG/IVIG免疫球蛋白替代。本综述包括三个部分；PID概述，专注于CVID，其次是对PID的基因检测，最后是对风湿病学家的临床表现。
