Abstract: Primary immunodeficiency disease（PID）is a group of disorders in which the number of immune cells is abnormal and/or the function of immune cells is impaired primarily by mutations in a single gene. Nearly 1/4 of PID patients suffered from autoimmune diseases. The clinical manifestations and mechanisms of PID autoimmunity are diverse，so the treatment is challenging. PID with autoimmunity is a negative prognostic factor. This paper summarized the clinical manifestations，pathogenesis，and treatment progress of autoimmunity in PID，aiming to improve the understanding of this disease，which contributes to early diagnosis and treatment，prevents the related terminal organ injury，and improves patients’ outcome.

Key words: primary immunodeficiency disease, autoimmune disease, targeted therapy

摘要： 原发性免疫缺陷病（primary immunodeficiency disease，PID）是一组主要由单基因突变导致免疫细胞数量和（或）功能异常的疾病。约1/4 的PID患者合并自身免疫性疾病。PID 自身免疫的临床表现多样，机制多样，治疗棘手；PID合并自身免疫是疾病预后不良因素。该文总结了最常见的PID自身免疫的临床表现、发病机制和治疗进展，旨在提高临床医师对该类疾病的认识，有助于早期诊治，防止与此有关的累积器官损伤，最终提高PID患者生活质量和预后。

关键词: 原发性免疫缺陷病, 自身免疫性疾病, 靶向治疗