Department of Immunology, Beijing Children's Hospital of Capital Medical University, National Center for Children's Health of China, Beijing, China.
Department of Immunology, Beijing Children's Hospital of Capital Medical University, National Center for Children's Health of China, Beijing, China
BMJ Paediatr Open. 2023 Jul;7(1). doi: 10.1136/bmjpo-2023-002002.
Inborn errors of immunity (IEI), also known as primary immunodeficiency diseases, comprise a group of rare genetic disorders that affect the development or/and function of the immune system. These disorders predispose individuals to recurrent infections, autoimmunity, cancer and immune dysregulations. The field of IEI diagnosis and treatment in mainland China has made significant strides in recent years due to advances in genome sequencing, genetics, immunology and treatment strategies. However, the accessibility and affordability of diagnostic facilities and precision treatments remain variable among different regions. With the increasing government emphasis on rare disease prevention, diagnosis, and treatment, the field of IEI is expected to progress further in mainland China. Herein, we reviewed the development and current state of IEI in mainland China, highlighting the achievements made, as well as opportunities and challenges that lie ahead.
先天性免疫缺陷（IEI），又称原发性免疫缺陷病，是一组影响免疫系统发育或/和功能的罕见遗传性疾病。这些疾病使个体容易反复感染、自身免疫、癌症和免疫失调。近年来，由于基因组测序、遗传学、免疫学和治疗策略的进步，中国大陆的 IEI 诊断和治疗领域取得了重大进展。然而，不同地区的诊断设施和精准治疗的可及性和可负担性仍存在差异。随着政府对罕见病预防、诊断和治疗的重视程度不断提高，IEI 领域预计将在中国大陆取得进一步进展。在此，我们回顾了中国大陆 IEI 的发展现状，强调了所取得的成就，以及未来的机遇和挑战。
