过敏性疾病合并原发性免疫缺陷的诊治进展  

Progress on the diagnosis and therapy about atopic diseases and primary immunodeficiency diseases

作　　者：潘周娴 徐迎阳[1] 边赛男 李冀[2] 蒋宇林[3] 李骥[4] 关凯[1] Pan Zhouxian;Xu Yingyang;Bian Sainan;Li Ji;Jiang Yulin;Li Ji;Guan Kai(Department of Allergy,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing Key Laboratory of Precision Medicine for Diagnosis and Treatment on Allergic Diseases,Beijing 100730,China;Department of Pediatrics,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing 100730,China;Department of Gynaecology and Obstetrics,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing 100730,China;Department of Gastroenterology,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院变态反应科,过敏性疾病精准诊疗研究北京市重点实验室,北京100730 [2]中国医学科学院北京协和医学院北京协和医院儿科,北京100730 [3]中国医学科学院北京协和医学院北京协和医院妇产科,北京100730 [4]中国医学科学院北京协和医学院北京协和医院消化科,北京100730

出　　处：《中华预防医学杂志》2022年第9期1218-1225,共8页Chinese Journal of Preventive Medicine

基　　金：国家自然科学基金(82070033);北京自然科学基金(7212074);北京市自然科学基金-海淀原始创新联合基金(L2020026)。

摘　　要：原发性免疫缺陷病(primary immunodeficiency diseases, PID)是由免疫系统相关的单基因胚系突变导致的先天性疾病。PID患者存在免疫过程失调, 对感染性疾病、自身免疫病、自身炎症性疾病、过敏性疾病和恶性肿瘤的易感性增加。部分PID患者以可疑过敏表现(如湿疹样皮损)为首发症状, 或因严重的过敏性疾病就诊于变态反应科。如何在有可疑表现的过敏患者中识别并诊断出PID、减少诊断延误、预防疾病加重, 是变态反应科、儿科及相关临床科室医生需要掌握的能力。本文总结归纳过敏患者中提示PID的警示征象和过敏合并PID的机制, 同时概述过敏患者中常见的PID类型、PID伴发过敏患者的评估、治疗及预防。Primary immunodeficiency diseases(PID)is a congenital disease caused by single gene germline mutation related to the immune system.PID patients have immune dysregulation,and are susceptible to infectious diseases,autoimmune diseases,autoimmune diseases,allergic diseases,and malignant tumors.The first symptom of some PID patients is atopic disease,therefore they go to the department of allergy,department of pediatrics and other relevant departments.How to identify and diagnose PID in allergic patients,to reduce diagnosis delay and prevent disease aggravation are the abilities that allergists,pediatricians,and doctors in other relevant departments need to master.This article summarizes the warning signs of PID in allergic patients and the mechanism of allergy combined with PID,and then summarizes the common types of PID in allergic patients,the evaluation,treatment and prevention in patients with PID and allergy.

关 键 词：原发性免疫缺陷 高IGE综合征 特应性皮炎 先天性免疫错误 过敏性疾病 免疫球蛋白替代治疗 

分 类 号：R593.2[医药卫生—内科学]