Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Unité d'Immuno-Hématologie et Rhumatologie pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; INSERM UMR 1163, Paris, France; Collège de France, Paris, France.
Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
J Allergy Clin Immunol. 2017 Nov;140(5):1388-1393.e8. doi: 10.1016/j.jaci.2016.12.978. Epub 2017 Feb 10.
Primary immunodeficiencies (PIDs) are inherited diseases associated with a considerable increase in susceptibility to infections. It is known that PIDs can also predispose to cancer and immune diseases, including allergy, autoimmunity, and inflammation.
We aimed at determining the incidence of autoimmunity and inflammation in patients with PIDs.
We have retrospectively screened 2183 consecutive cases of PID in the Centre de Référence Déficits Immunitaires Héréditaires registry (CEREDIH; the French national PID registry) for the occurrence of autoimmunity and inflammation.
One or more autoimmune and inflammatory complications were noted in 26.2% of patients, with a risk of onset throughout the patient's lifetime. The risk of autoimmune cytopenia was at least 120 times higher than in the general population, the risk of inflammatory bowel disease in children was 80 times higher, and the risk of other autoimmune manifestations was approximately 10 times higher. Remarkably, all types of PIDs were associated with a risk of autoimmune and inflammatory complications, although the greatest risk was associated with T-cell PIDs and common variable immunodeficiency. The occurrence of autoimmune disease is a negative prognostic factor for survival.
Our results provide the basis for a detailed prospective evaluation of autoimmunity and inflammation in the context of PIDs, with a view to accurately assessing these risks and describing the possible effect of medical intervention.
原发性免疫缺陷病（PIDs）是与感染易感性显著增加相关的遗传性疾病。已知 PIDs 也可导致癌症和免疫性疾病，包括过敏、自身免疫和炎症。
我们旨在确定 PID 患者发生自身免疫和炎症的情况。
我们回顾性筛选了法国国家 PID 注册中心（CEREDIH）连续的 2183 例 PID 病例，以确定自身免疫和炎症的发生情况。
26.2%的患者存在一种或多种自身免疫和炎症并发症，其发病风险贯穿患者的整个生命周期。自身免疫性血细胞减少症的发病风险至少比普通人群高 120 倍，儿童炎症性肠病的发病风险高 80 倍，其他自身免疫表现的发病风险高约 10 倍。值得注意的是，所有类型的 PID 均与自身免疫和炎症并发症的风险相关，尽管 T 细胞 PID 和常见可变免疫缺陷的风险最大。自身免疫性疾病的发生是生存的负预后因素。
我们的研究结果为 PID 背景下详细的自身免疫和炎症前瞻性评估提供了依据，以期准确评估这些风险并描述可能的医学干预效果。
