Sorbonne Université, AP-HP, Hôpital Tenon, Service de médecine interne, Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), GRC-28 (Groupe de recherche clinique amylose AA Sorbonne univeristé), Paris, France.
Service d'Immunopathologie Clinique, Hôpital Saint Louis, AP-HP, Paris, France.
J Allergy Clin Immunol Pract. 2021 Feb;9(2):745-752.e1. doi: 10.1016/j.jaip.2020.09.023. Epub 2020 Sep 30.
Primary immune deficiencies (PIDs) are a heterogeneous group of disorders resulting from defects in immune system. They lead to increased susceptibility to infections and immune dysregulation. The resulting chronic inflammation can induce long-term complications, including AA amyloidosis (AAA).
To present the French cases of PID-related AAA and perform a systematic literature review to determine its main features and predisposing factors.
A systematic literature review was performed by searching MEDLINE up until 2019. New French cases were identified with the help of the Reference Center for Auto-Inflammatory Diseases and AA Amyloidosis and the Reference Center for Hereditary Immune Deficiencies.
Forty patients were identified including 2 new French cases. PIDs were varied: immunoglobulin deficits (n = 30), chronic granulomatous disease (n = 3), hyper-IgM syndrome (n = 3), hereditary complete C4 deficiency (n = 1), leucocyte adhesion deficiency type 1 (n = 1), hyper-IgE syndrome (n = 1), and Chediak-Higashi syndrome (n = 1). The mean age at PID diagnosis was 22.2 ± 16.02 years. Renal involvement was the most common manifestation of AAA (80%). Infections were extremely heterogeneous; bacterial infection with pulmonary involvement was the most frequent. Bronchiectasis was particularly common (52.5%). The delay between the first symptoms of PID and AAA diagnosis was 16.18 ± 7 years. Thirteen concomitant diagnoses were made. Twenty patients died during follow-up.
AAA is a rare life-threatening complication of PID, especially in cases of long diagnostic and therapeutic delays. Bronchiectasis should be considered as a warning sign of chronic inflammation and increased risk of AAA.
原发性免疫缺陷（PID）是一组由免疫系统缺陷引起的异质性疾病。它们导致易感染和免疫失调。由此产生的慢性炎症会引起长期并发症，包括 AA 淀粉样变性（AAA）。
介绍法国与 PID 相关的 AAA 病例，并进行系统文献复习，以确定其主要特征和易患因素。
通过搜索 MEDLINE 进行系统文献复习，检索截至 2019 年的数据。在自身炎症性疾病和 AA 淀粉样变性参考中心以及遗传性免疫缺陷参考中心的帮助下，发现了新的法国病例。
共发现 40 例患者，包括 2 例新的法国病例。PID 多种多样：免疫球蛋白缺陷（n=30）、慢性肉芽肿病（n=3）、高 IgM 综合征（n=3）、遗传性完全 C4 缺乏症（n=1）、白细胞黏附缺陷 1 型（n=1）、高 IgE 综合征（n=1）和 Chediak-Higashi 综合征（n=1）。PID 诊断时的平均年龄为 22.2±16.02 岁。肾脏受累是 AAA 最常见的表现（80%）。感染极其多样；肺部受累的细菌性感染最为常见。支气管扩张症特别常见（52.5%）。PID 首次症状与 AAA 诊断之间的时间间隔为 16.18±7 年。同时诊断了 13 种疾病。20 例患者在随访期间死亡。
AAA 是 PID 的一种罕见的危及生命的并发症，尤其是在诊断和治疗延迟时间长的情况下。支气管扩张症应被视为慢性炎症和 AAA 风险增加的警告信号。
