Oktelik Fatma Betul, Luo Ying, Benamar Mehdi, Chatila Talal A
Division of Immunology, Boston Children's Hospital, Boston, Mass; Department of Pediatrics, Harvard Medical School, Boston, Mass; Department of Immunology, Aziz Sancar Institute of Experimental Medicine (Aziz Sancar DETAE), Istanbul University, Istanbul, Turkey.
Division of Immunology, Boston Children's Hospital, Boston, Mass; Department of Rheumatology and Immunology, Shenzhen Children's Hospital, Shenzhen, China.
J Allergy Clin Immunol. 2025 Jul 7. doi: 10.1016/j.jaci.2025.07.001.
Regulatory T (Treg) cells play an essential role in enforcing peripheral immune tolerance and promoting tissue homeostasis and repair. Our understanding of their pivotal role in immune regulation has critically benefited from the identification of a growing number of inborn errors of immunity known as Tregopathies, which target different pathways governing Treg cell biology. The resulting disorders associated with mutations in gene such as FOXP3, CTLA4, IL2RA, IL2RB, BACH2, IKAROS, STAT3, LRBA, and DEF6 manifest both unique and overlapping phenotypes of immune dysregulation and autoimmunity, highlighting the distinctive roles of individual Treg cell pathways targeted by inborn errors of immunity in immune regulation. We examine the current knowledge of Tregopathies and the immune regulatory networks they affect.
调节性T（Treg）细胞在维持外周免疫耐受、促进组织稳态和修复方面发挥着至关重要的作用。我们对其在免疫调节中关键作用的理解，极大地受益于越来越多被称为Treg细胞病的先天性免疫缺陷的发现，这些缺陷靶向控制Treg细胞生物学的不同途径。与FOXP3、CTLA4、IL2RA、IL2RB、BACH2、IKAROS、STAT3、LRBA和DEF6等基因的突变相关的疾病，表现出免疫失调和自身免疫的独特且重叠的表型，突出了免疫先天性缺陷所靶向的各个Treg细胞途径在免疫调节中的独特作用。我们研究了目前关于Treg细胞病及其所影响的免疫调节网络的知识。
