NFKBIA突变致免疫出生缺陷研究进展
Research Progress on Inborn Errors of Immunity Caused by NFKBIA Mutation
DOI: 10.12677/acm.2024.1451471, PDF,    科研立项经费支持
作者: 李光曌, 赵晓东, 吴俊峰*：重庆医科大学附属儿童医院风湿免疫科，国家儿童健康与疾病临床医学研究中心，儿童发育疾病研究教育部重点实验室，儿童感染与免疫罕见病重庆市重点实验室，重庆
关键词: NFKBIA基因突变；免疫出生缺陷；外胚层发育不良；NF-κB通路；NFKBIA Mutation； Inborn Errors of Immunity； Ectodermal Dysplasia； NF-κB Pathway
摘要: NFKBIA突变致免疫出生缺陷极为罕见，目前全球仅报道23例病例，但其死亡率近50%，早期诊治尤为关键。NFKBIA编码IκBα，其突变导致IκBα降解受阻碍，引起NF-κB通路活化障碍，临床表现为免疫缺陷伴(或不伴)少汗或无汗型外胚层发育不良，主要治疗方式为免疫球蛋白替代治疗和抗感染治疗，根治方法为造血干细胞移植。近年来，对NFKBIA突变致免疫出生缺陷的研究逐渐增多，为提高临床医师对该病的认识，本文就NFKBIA突变致免疫出生缺陷研究进展进行综述。
Abstract: NFKBIA mutation-induced immunodeficiency is extremely rare, with only 23 cases reported worldwide, but with a mortality rate of nearly 50%, early diagnosis and treatment are critical. NFKBIA encodes IκBα, whose mutation leads to impaired degradation of IκBα, resulting in the impaired activation of the NF-κB pathway, which is clinically manifested as immune deficiency with or without hypohidrosis or anhidrosis ectodermal dysplasia. The main treatment is immunoglobulin replacement and anti-infection therapy, and the radical treatment is hematopoietic stem cell transplantation. In recent years, the research on NFKBIA mutation-induced immunodeficiency has been increasing gradually. To improve clinicians’ understanding of NFKBIA mutation-induced immunodeficiency, this paper reviews the research progress of NFKBIA mutation-induced immunodeficiency.
文章引用：李光曌, 赵晓东, 吴俊峰. NFKBIA突变致免疫出生缺陷研究进展[J]. 临床医学进展, 2024, 14(5): 630-638. https://doi.org/10.12677/acm.2024.1451471

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