Inborn errors of immunity in mainland China: the past, present and future

Author:

Deng Mengyue,Mao HuaweiORCID

Abstract

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.

Funder

National Natural Science Foundation of China

Beijing Hospitals Authority’s Ascent Plan

National Key Research and Development Program of China

Wu Jieping Medical Foundation

R&D Program of Beijing Municipal Education Commission

Publisher

BMJ

Subject

Pediatrics, Perinatology and Child Health

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Disparities in Diagnosis, Access to Specialist Care, and Treatment for Inborn Errors of Immunity;The Journal of Allergy and Clinical Immunology: In Practice;2023-10

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