IPEX and the role of FOXP3 in the development and function of human Tregs

被引：59
|
作者：
Le Bras, Severine
Geha, Raif S.
机构：
[1] Harvard Univ, Div Immunol, Childrens Hosp, Sch Med, Boston, MA 02115 USA
[2] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA
来源：
JOURNAL OF CLINICAL INVESTIGATION | 2006年 / 116卷 / 06期
关键词：
D O I：
10.1172/JCI28880
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
Genetic defects in the transcription factor forkhead box protein P3 (FOXP3) cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX). IPEX is thought to be due to a defect in naturally arising CD4(+) Tregs. In this issue of the JCI, Bacchetta and colleagues demonstrate that patients with IPEX and missense mutations in FOXP3 provide insight into the role of various domains of FOXP3 in the development and function of Tregs (see the related article beginning on page 1713).
引用
收藏
页码：1473 / 1475
页数：3
相关论文
共 50 条
  • [41] Human FOXP3 and cancer
    F Martin
    S Ladoire
    G Mignot
    L Apetoh
    F Ghiringhelli
    Oncogene, 2010, 29 : 4121 - 4129
  • [42] FOXP3 Forkhead Domain Mutation and Regulatory T Cells in the IPEX Syndrome
    d'Hennezel, Eva
    Ben-Shoshan, Moshe
    Ochs, Hans D.
    Torgerson, Troy R.
    Russell, Laura J.
    Lejtenyi, Christine
    Noya, Francisco J.
    Jabado, Nada
    Mazer, Bruce
    Piccirillo, Ciriaco A.
    NEW ENGLAND JOURNAL OF MEDICINE, 2009, 361 (17): : 1710 - 1713
  • [43] Helios, and not FoxP3, is the marker of activated Tregs expressing GARP/LAP
    Elkord, Eyad
    Al Samid, May Abd
    Chaudhary, Belal
    ONCOTARGET, 2015, 6 (24) : 20026 - 20036
  • [44] Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation
    Narula, Mansi
    Lakshmanan, Uma
    Borna, Simon
    Schulze, Janika J.
    Holmes, Tyson H.
    Harre, Nicholas
    Kirkey, Matthew
    Ramachandran, Akshaya
    Tagi, Veronica Maria
    Barzaghi, Federica
    Grunebaum, Eyal
    Upton, Julia E. M.
    Kim, Vy Hong-Diep
    Wysocki, Christian
    Dimitriades, Victoria R.
    Weinberg, Kenneth
    Weinacht, Katja G.
    Gernez, Yael
    Sathi, Bindu K.
    Schelotto, Magdalena
    Johnson, Matthew
    Olek, Sven
    Sachsenmaier, Christoph
    Roncarolo, Maria-Grazia
    Bacchetta, Rosa
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2023, 151 (01) : 233 - +
  • [45] IPEX Syndrome Caused by A Novel Mutation in Foxp3 Gene: A Case Report
    Ngoc Can Thi Bich
    Dung Vu Chi
    Thao Bui Phuong
    Khanh Nguyen Ngoc
    Mai Do Thi Thanh
    Johnson, Matthew
    De Franco, Elisa
    Ellard, Sian
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 353 - 354
  • [46] Exploring 'IPEX-like Syndrome': What is Beyond FOXP3 Gene?
    Vignoli, Marina
    Mannurita, Sara Ciullini
    Bianchi, Lucia
    Bacchetta, Rosa
    Cecconi, Massimiliano
    Tommasini, Alberto
    Abinun, Mario
    Gennery, Andy
    Hambleton, Sophie
    Slatter, Mary
    Cant, Andrew
    de Martino, Maurizio
    Gambineri, Eleonora
    CLINICAL IMMUNOLOGY, 2010, 135 : S140 - S140
  • [47] IPEX as a Result of Mutations in FOXP3 Two Case Reports and Review of the Literature
    Zhu, Qiong
    Wang, Chunlin
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 214 - 214
  • [48] Persistence of FOXP3 expression is impaired in RR-MS Tregs
    Schneider, Anya
    Long, Sarah Alice
    Kita, Mariko
    Buckner, Jane H.
    JOURNAL OF IMMUNOLOGY, 2009, 182
  • [49] Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report
    Ke, Ruijuan
    Zhu, Ying
    Deng, Fang
    Xu, Daliang
    FRONTIERS IN GENETICS, 2022, 12
  • [50] From Ipex to foxp3: A new contribution of pediatrics to the understanding of the immune system
    Marabelle, A.
    Meyer, M.
    Demeocq, F.
    Lachaux, A.
    ARCHIVES DE PEDIATRIE, 2008, 15 (01): : 55 - 63
12345