FOXP3 deficiency, from the mechanisms of the disease to curative strategies

被引：9

作者：

Borna, Simon ^{[1
]}

Meffre, Eric ^{[2
]}

Bacchetta, Rosa ^{[1
,3
,4
]}

机构：

[1] Stanford Univ, Sch Med, Dept Pediat, Div Hematol Oncol Stem Cell Transplantat & Regener, Stanford, CA USA

[2] Stanford Univ, Sch Med, Dept Med, Div Immunol & Rheumatol, Stanford, CA USA

[3] Stanford Univ, Sch Med, Ctr Definit & Curat Med CDCM, Stanford, CA USA

[4] Stanford Univ, Sch Med, Dept Pediat, Div Hematol Oncol Stem Cell Transplantat & Regener, 265 Campus Dr, Stanford, CA 94305 USA

来源：

IMMUNOLOGICAL REVIEWS | 2024年 / 322卷 / 01期

关键词：

autoreactive B cells; autoreactive T cells; gene therapy; IPEX; Treg cells; TSDR; X-LINKED SYNDROME; REGULATORY T-CELLS; IMMUNE DYSREGULATION; TRANSCRIPTION FACTOR; IPEX SYNDROME; B-CELLS; POLYENDOCRINOPATHY; ENTEROPATHY; EXPRESSION; MUTATIONS;

D O I：

10.1111/imr.13289

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

FOXP3 gene is a key transcription factor driving immune tolerance and its deficiency causes immune dysregulation, polyendocrinopathy, enteropathy X-linked syndrome (IPEX), a prototypic primary immune regulatory disorder (PIRD) with defective regulatory T (Treg) cells. Although life-threatening, the increased awareness and early diagnosis have contributed to improved control of the disease. IPEX currently comprises a broad spectrum of clinical autoimmune manifestations from severe early onset organ involvement to moderate, recurrent manifestations. This review focuses on the mechanistic advancements that, since the IPEX discovery in early 2000, have informed the role of the human FOXP3+ Treg cells in controlling peripheral tolerance and shaping the overall immune landscape of IPEX patients and carrier mothers, contributing to defining new treatments.

引用

页码：244 / 258

页数：15

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