Inflammatory conditions are increasingly described in patients with primary immunodeficiencies; however, little is known about the prevalence of immune defects in patients who present first with autoimmunity. We describe the immunologic features of children with early-onset/polyautoimmunity followed in the Multiple Autoimmunity and Immunodeficiency (MAID) Clinic, where patients are co-managed by rheumatologists and immunologists. The most common autoimmune manifestations were cytopenias, lymphoproliferation, and colitis. Recurrent infections were noted in 65% of patients. Abnormalities in lymphocyte subsets and immunoglobulins were common. A pathogenic variant was identified in 19% of patients, and 2 novel inherited disorders were discovered. Additionally, 42% of patients had treatment changes implemented in the MAID clinic. By evaluating this unique cohort of patients, we report on the immunologic underpinning of early-onset/polyautoimmunity. The high rate of genetic diagnoses and treatment interventions in this population highlights the value of collaboration between rheumatologists and immunologists in the care of these complex patients.

中文翻译：

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早期发作和多自身免疫患者的免疫学特征。

原发性免疫缺陷患者的炎症状况越来越多。然而，对于首先表现为自身免疫的患者中免疫缺陷的患病率知之甚少。我们描述了多发性自身免疫和免疫缺陷（MAID）诊所继之的早期发作/多自身免疫儿童的免疫学特征，其中患者由风湿病学家和免疫学家共同管理。最常见的自身免疫表现是血细胞减少，淋巴增生和结肠炎。在65％的患者中发现了反复感染。淋巴细胞亚群和免疫球蛋白异常是常见的。在19％的患者中发现了致病变异，并发现了2种新的遗传性疾病。此外，有42％的患者在MAID诊所进行了治疗更改。通过评估这一独特的患者队列，我们​​报告了早期发作/多自身免疫的免疫学基础。该人群中遗传学诊断和治疗干预的高比率凸显了风湿病学家和免疫学家之间在这些复杂患者的护理中合作的价值。