Department of Rheumatology and Clinical Immunology, University Medical Centre Utrecht, Utrecht, The Netherlands.
Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Heinrich Collingasse 30, A-1140, Wien, Austria.
Curr Rheumatol Rep. 2019 Sep 5;21(10):55. doi: 10.1007/s11926-019-0854-5.
The purpose of this review is to provide an overview of the most relevant new disorders, disease entities, or disease phenotypes of primary immune deficiency disorders (PID) for the interested rheumatologist, using the new phenotypic classification by the IUIS (International Union of Immunological Societies) as practical guide.
Newly recognized disorders of immune dysregulation with underlying mutations in genes pertaining to the function of regulatory T cells (e.g., CTLA-4, LRBA, or BACH2) are characterized by multiple autoimmune diseases-mostly autoimmune cytopenia-combined with an increased susceptibility to infections due to hypogammaglobulinemia. On the other hand, new mutations (e.g., in NF-kB1, PI3Kδ, PI3KR1, PKCδ) leading to the clinical picture of CVID (common variable immmune deficiency) have been shown to increasingly associate with autoimmune diseases. The mutual association of autoimmune diseases with PID warrants increased awareness of immunodeficiencies when diagnosing autoimmune diseases with a possible need to initiate appropriate genetic tests.
本综述旨在为感兴趣的风湿病医生提供原发性免疫缺陷病（PID）的最新相关新疾病、疾病实体或疾病表型概述，使用 IUIS（国际免疫学联合会）的新表型分类作为实用指南。
新发现的免疫失调疾病，其潜在突变基因与调节性 T 细胞的功能有关（例如 CTLA-4、LRBA 或 BACH2），其特征是多种自身免疫性疾病——主要是自身免疫性血细胞减少症——合并由于低丙种球蛋白血症导致的感染易感性增加。另一方面，新的突变（例如 NF-kB1、PI3Kδ、PI3KR1、PKCδ）导致 CVID（常见可变免疫缺陷）的临床表现，越来越与自身免疫性疾病相关。自身免疫性疾病与 PID 的相互关联，当诊断可能需要进行适当的基因检测的自身免疫性疾病时，需要提高对免疫缺陷的认识。
