中华临床免疫和变态反应杂志2025，Vol.19Issue(6)：441-447,7.DOI:10.3969∕j.issn.1673-8705.2025.06.008
CTLA4缺陷相关疾病的临床特征及治疗进展
Clinical features and therapeutic advances in diseases associated with CTLA4-related de-ficiency
摘要
Abstract
Diseases associated with cytotoxic T lymphocyte antigen-4(CTLA4)deficiency primarily in-clude CTLA4 haploinsufficiency with autoimmune infiltration(CHAI)and lipopolysaccharide-responsive and beige-like anchor protein(LRBA)deficiency with autoantibodies,regulatory T(Treg)cell defects,autoim-mune infiltration,and enteropathy(LATAIE).Immunomodulatory therapies,targeted protein replacement,and hematopoietic stem cell transplantation have demonstrated varying degrees of efficacy in managing the di-verse clinical manifestations associated with CTLA4 deficiency-related disorders.This review centers on the key immunomodulatory proteins CTLA4 and LRBA,aiming to provide a comprehensive summary of clinical mani-festations,immunological characteristics,and recent therapeutic advancements in CTLA4 deficiency.The ob-jective is to enhance clinical awareness and support improved diagnosis,treatment strategies,and future re-search directions.关键词
原发性免疫缺陷病/CTLA4缺陷/LRBA缺陷/Treg细胞Key words
Primary immunodeficiency diseases/CTLA4 deficiency/LRBA deficiency/Treg cells引用本文复制引用
王若贤,谷昊,舒洲,毛华伟..CTLA4缺陷相关疾病的临床特征及治疗进展[J].中华临床免疫和变态反应杂志,2025,19(6):441-447,7.基金项目
北京市自然科学基金(7254348) （7254348）
国家自然科学基金(82502182) （82502182）
国家重点研发计划项目(2021YFC2702005,2022YFC2703101) （2021YFC2702005,2022YFC2703101）
北京市医院管理中心"登峰"计划(DFL20221001) （DFL20221001）
北京市医院管理中心临床医学发展专项经费(ZLRK202527) Beijing Municipal Natural Science Foundation(7254348) （ZLRK202527）
National Natural Science Foundation of China(82502182) （82502182）
National Key R&D Program of China(2021YFC2702005,2022YFC2703101) （2021YFC2702005,2022YFC2703101）
Beijing Hospitals Authority's Ascent Plan(DFL20221001) （DFL20221001）
Beijing Hospitals Authority Clinical Medicine Development of Special Funding(ZLRK202527) （ZLRK202527）
