Division of Pediatric Pulmonology, Allergy and Sleep Medicine, Riley Hospital for Children, 705 Riley Hospital Dr, ROC 4270, Indianapolis, IN, 46202, USA.
United States Immunodeficiency Network, Towson, MD, USA.
Clin Rheumatol. 2022 Jul;41(7):2197-2203. doi: 10.1007/s10067-021-06044-4. Epub 2022 Jan 31.
There is a gap in clinical knowledge regarding associations between specific inborn errors of immunity (IEIs) and rheumatologic diseases. This study reports the frequency of rheumatologic conditions in a large cohort of patients with IEI using the USIDNET (United States Immunodeficiency Network) registry. We used the USIDNET registry to conduct the analysis. We included all IEI patients within the registry for whom a diagnosed rheumatologic disease was reported. The total number of patients with IEI in our query was 5058. Among those, 278 (5.49%) patients had a diagnosis of rheumatologic disease. This cohort included 172 (61.8%) female and 106 (38.2%) male patients. Rheumatologic complications were highest in the interferonopathies (66.6%), autoimmune lymphoproliferative syndrome (ALPS) (13.7%), and immunoglobulin G subclass deficiency (IgGSD) (11.11%). Additionally, disease patterns were noted to be different in various IEI disease groups. Inflammatory myopathies were the most common rheumatologic condition in patients with X-linked agammaglobulinemia (1.65%), Sjogren's syndrome was the most common rheumatologic disease reported in ALPS patients (6.85%), and systemic lupus erythematosus was the most common rheumatologic disease in patients with chronic mucocutaneous candidiasis (CMC) (7.41%). Rheumatoid arthritis (RA) report rate was highest in patients with IgGSD (3.70%), specific antibody deficiency (SAD) (3.66%), and ALPS (2.74%). This study reports that rheumatologic diseases are frequently observed in patients with IEI. The frequency of different rheumatologic conditions was variable based on the underlying diagnosis. Clinicians caring for patients with IEI should be vigilant to monitor for rheumatologic complications. Key Points • The rates of reported rheumatologic diseases in the USIDNET registry are different in individual IEIs. • Further studies are needed to guide clinicians for detecting rheumatologic conditions earlier in patients with IEI.
在特定的先天性免疫缺陷（IEI）与风湿性疾病之间的关联方面，临床知识存在空白。本研究使用美国免疫缺陷网络（USIDNET）登记处报告了大量 IEI 患者的风湿性疾病的频率。我们使用 USIDNET 登记处进行了分析。我们纳入了登记处中报告有确诊的风湿性疾病的所有 IEI 患者。我们查询中的 IEI 患者总数为 5058 人。其中，278 人（5.49%）患有风湿性疾病。该队列包括 172 名（61.8%）女性和 106 名（38.2%）男性患者。干扰素病（66.6%）、自身免疫性淋巴增生综合征（ALPS）（13.7%）和免疫球蛋白 G 亚类缺陷（IgGSD）（11.11%）患者的风湿性并发症发生率最高。此外，在不同的 IEI 疾病组中还注意到疾病模式有所不同。炎性肌病是 X 连锁无丙种球蛋白血症患者最常见的风湿性疾病（1.65%），Sjogren 综合征是 ALPS 患者最常见的风湿性疾病（6.85%），系统性红斑狼疮是慢性黏膜皮肤念珠菌病（CMC）患者最常见的风湿性疾病（7.41%）。类风湿关节炎（RA）的报告率在 IgGSD（3.70%）、特异性抗体缺陷（SAD）（3.66%）和 ALPS（2.74%）患者中最高。本研究报告称，IEI 患者中经常观察到风湿性疾病。根据潜在诊断，不同风湿性疾病的发生率有所不同。照顾 IEI 患者的临床医生应保持警惕，监测风湿性并发症。关键点 • USIDNET 登记处报告的风湿性疾病在个体 IEI 中有所不同。 • 需要进一步研究来指导临床医生更早地发现 IEI 患者的风湿性疾病。
