Introduction and objectives

As well as increased susceptibility to infections, autoimmune and inflammatory manifestations also eventuate due to dysregulation of immune system in a substantial proportion of patients with primary immunodeficiency (PID). Autoimmune and inflammatory manifestations can occur prior or after diagnosis of PID. This study aimed to evaluate autoimmune and inflammatory complications among all types of PID patients in childhood and to emphasize the importance of these findings as a warning sign to diagnose PIDs.

Methods

Medical records of 1036 patients with PID, followed up between 2003 and 2019, were retrospectively screened for occurrence of autoimmunity and inflammation. During this time, demographic features, autoimmune/inflammatory findings and initial time, genetic mutations, laboratory and clinical follow up findings, treatment regimens and outcomes were recorded.

Results

Autoimmune and inflammatory manifestations were observed in 83 patients (10.1%). The median age of autoimmunity initial time was 61.3 ± 53 months. Sixty-seven (80.7%) patients presented with autoimmune and inflammatory manifestations, and these findings had occurred during 16 patients’ (19.3%) follow-up. The most common autoimmune manifestations were autoimmune hematologic (51.8%) and endocrine diseases (26.5%). Fifty patients (60.2%) had a single autoimmune/inflammatory manifestation, however 23 patients (27.7%) had two, eight patients (9.6%) had three and two patients (2.4%) had four different types of autoimmune/inflammatory manifestations. The frequency of autoimmune and inflammatory manifestations in phagocyte defects (56%), combined immune deficiencies (53%) and immune dysregulation diseases (52%) were observed higher than other forms of PIDs. During follow-up 13 (15.7%) patients died.

Conclusion

Autoimmune/inflammatory manifestations are associated with high morbidity in patients with PIDs and may precede the diagnosis of PID in childhood. Therefore, physicians must be aware of underlying possible immune deficiency and patients with known PIDs should be evaluated for autoimmune and inflammatory complications.

中文翻译：

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原发性免疫缺陷儿科患者的自身免疫和炎症表现及其作为警告信号的重要性。

介绍和目标

除了对感染的易感性增加外，很大一部分原发性免疫缺陷 (PID) 患者的免疫系统失调也会导致自身免疫和炎症表现。自身免疫性和炎症表现可能发生在 PID 诊断之前或之后。本研究旨在评估儿童期所有类型 PID 患者的自身免疫和炎症并发症，并强调这些发现作为诊断 PID 的警告信号的重要性。

方法

对 2003 年至 2019 年间随访的 1036 名 PID 患者的医疗记录进行了回顾性筛查，以发现自身免疫和炎症的发生。在此期间，记录人口统计学特征、自身免疫/炎症结果和初始时间、基因突变、实验室和临床随访结果、治疗方案和结果。

结果

在 83 名患者 (10.1%) 中观察到自身免疫和炎症表现。自身免疫初始时间的中位年龄为 61.3 ± 53 个月。67 名 (80.7%) 患者出现自身免疫和炎症表现，这些发现发生在 16 名患者 (19.3%) 的随访期间。最常见的自身免疫表现是自身免疫性血液病（51.8%）和内分泌疾病（26.5%）。50 名患者 (60.2%) 有单一的自身免疫/炎症表现，但 23 名患者 (27.7%) 有 2 种，8 名患者 (9.6%) 有 3 种，2 名患者 (2.4%) 有四种不同类型的自身免疫/炎症表现。吞噬细胞缺陷中自身免疫和炎症表现的频率（56%），观察到联合免疫缺陷 (53%) 和免疫失调疾病 (52%) 高于其他形式的 PID。在随访期间，13 名 (15.7%) 患者死亡。

结论

自身免疫/炎症表现与 PID 患者的高发病率相关，并且可能在儿童期 PID 诊断之前出现。因此，医生必须意识到潜在的潜在免疫缺陷，已知 PID 的患者应评估自身免疫和炎症并发症。