Blazina Štefan, Markelj Gašper, Jeverica Anja Koren, Toplak Nataša, Bratanič Nevenka, Jazbec Janez, Kopač Peter, Debeljak Maruša, Ihan Alojz, Avčin Tadej
Department of Allergology, Rheumatology and Clinical Immunology, Children's Hospital Ljubljana, University Medical Center Ljubljana, Ljubljana, Slovenia.
Department of Paediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
J Clin Immunol. 2016 Nov;36(8):764-773. doi: 10.1007/s10875-016-0330-1. Epub 2016 Aug 31.
An abnormal regulation of immune responses leads to autoimmune and inflammatory manifestations in patients with primary immunodeficiencies (PIDs). The objective of our study was to evaluate the frequency of non-infectious and non-malignant manifestations in a large cohort of patients included in the Slovenian national PID registry and to assess the time of manifestation onset with respect to the time of PID diagnosis. Medical records of registered patients were reviewed. Data on autoimmunity, lymphoproliferation, autoinflammation, allergies, PID diagnosis, and underlying genetic defects were collected and analyzed. The time of each manifestation onset was determined and compared with the time of PID diagnosis. As of May 2015, 247 patients with 50 different PIDs were registered in the Slovenian national PID registry (147 males, 100 females; mean age 20 years). Mean disease duration was 14 years; 78 % of patients were younger than 18 years; and 22 % of patients were adults. Diagnosis of PID was genetically confirmed in 51 % of patients. Non-infectious and non-malignant manifestations were present in 69/235 (29 %) patients, including autoimmune manifestations in 52/235 (22 %), lymphoproliferative/granulomatous in 28/235 (12 %), autoinflammatory in 12/247 (5 %), and allergic manifestations in 10/235 (4 %) of all registered patients. Autoimmune manifestations were present in all patients whose PIDs were classified as diseases of immune dysregulation, 47 % of patients with chronic granulomatous disease, and 38 % of patients with predominantly antibody immune deficiencies. A high prevalence of non-infectious and non-malignant manifestations among patients in the Slovenian national PID registry suggests common genetic factors of autoimmunity, inflammation, and immunodeficiency. Patients with PID should be routinely screened for autoimmune and inflammatory manifestations at the time of PID diagnosis and during the long-term follow up.
免疫反应的异常调节会导致原发性免疫缺陷（PID）患者出现自身免疫和炎症表现。我们研究的目的是评估纳入斯洛文尼亚国家PID登记处的一大群患者中非感染性和非恶性表现的频率，并评估这些表现相对于PID诊断时间的发病时间。对登记患者的病历进行了回顾。收集并分析了关于自身免疫、淋巴细胞增殖、自身炎症、过敏、PID诊断及潜在遗传缺陷的数据。确定每种表现的发病时间并与PID诊断时间进行比较。截至2015年5月，斯洛文尼亚国家PID登记处登记了247例患有50种不同PID的患者（147例男性，100例女性；平均年龄20岁）。平均病程为14年；78%的患者年龄小于18岁；22%的患者为成年人。51%的患者通过基因确诊PID。69/235（29%）例患者存在非感染性和非恶性表现，其中52/235（22%）例为自身免疫表现，28/235（12%）例为淋巴细胞增殖/肉芽肿性表现，12/247（5%）例为自身炎症表现，10/235（4%）例为所有登记患者中的过敏表现。自身免疫表现出现在所有PID被归类为免疫失调疾病的患者中，47%的慢性肉芽肿病患者以及38%的主要为抗体免疫缺陷的患者中。斯洛文尼亚国家PID登记处患者中非感染性和非恶性表现的高患病率提示自身免疫、炎症和免疫缺陷存在共同的遗传因素。PID患者在PID诊断时及长期随访期间应常规筛查自身免疫和炎症表现。
