The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

被引：110

作者：

d'Hennezel, Eva ^{[1
,2
]}

Bin Dhuban, Khalid ^{[1
,2
]}

Torgerson, Troy ^{[3
]}

Piccirillo, Ciriaco ^{[1
,2
]}

机构：

[1] McGill Univ, Dept Microbiol & Immunol, Montreal, PQ H3G 1A4, Canada

[2] McGill Univ, Ctr Hlth, Res Inst, FOCIS Ctr Excellence, Montreal, PQ H3G 1A4, Canada

[3] Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98195 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2012年 / 49卷 / 05期

关键词：

REGULATORY T-CELLS; BONE-MARROW-TRANSPLANTATION; NEONATAL DIABETES-MELLITUS; FOXP3; MUTATIONS; IN-VIVO; AUTOIMMUNE ENTEROPATHY; SUPPRESSIVE FUNCTION; HISTONE ACETYLATION; JAPANESE PATIENTS; FORKHEAD DOMAIN;

D O I：

10.1136/jmedgenet-2012-100759

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome is a rare disorder in humans caused by germ-line mutations in the FOXP3 gene, a master transcriptional regulator for the development of CD4 regulatory T (Treg) cells. This T cell subset has global inhibitory functions that maintain immune homeostasis and mediate self-tolerance. Treg developmental deficiency or dysfunction is a hallmark of IPEX. It leads to severe, multi-organ, autoimmune phenomena including enteropathy, chronic dermatitis, endocrinopathy and other organ-specific diseases such as anaemia, thrombocytopenia, hepatitis and nephritis. In this review, the genetic, immunological and clinical characteristics of IPEX syndrome are described, and the impact of heritable mutations on the function of Treg cells highlighted.

引用

页码：291 / 302

页数：12

共 93 条

[1] Generation of potent and stable human CD4+ T regulatory cells by activation-independent expression of FOXP3 [J].

Allan, Sarah E. ;

Alstad, Alicia N. ;

Merindol, Natacha ;

Crellin, Natasha K. ;

Amendola, Mario ;

Bacchetta, Rosa ;

Naldini, Luigi ;

Roncarolo, Maria Grazia ;

Soudeyns, Hugo ;

Levings, Megan K. .

MOLECULAR THERAPY, 2008, 16 (01) :194-202

[2] Clinical and Molecular Characteristics of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome in China [J].

An, Y-F. ;

Xu, F. ;

Wang, M. ;

Zhang, Z-Y. ;

Zhao, X-D. .

SCANDINAVIAN JOURNAL OF IMMUNOLOGY, 2011, 74 (03) :304-309

[3] TH cell differentiation is accompanied by dynamic changes in histone acetylation of cytokine genes [J].

Avni, O ;

Lee, D ;

Macian, F ;

Szabo, SJ ;

Glimcher, LH ;

Rao, A .

NATURE IMMUNOLOGY, 2002, 3 (07) :643-651

[4] Human memory FOXP3+ Tregs secrete IL-17 ex vivo and constitutively express the TH17 lineage-specific transcription factor RORγt [J].

Ayyoub, Maha ;

Deknuydt, Florence ;

Raimbaud, Isabelle ;

Dousset, Christelle ;

Leveque, Lucie ;

Bioley, Gilles ;

Valmori, Danila .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (21) :8635-8640

[5] Defective regulatory and effector T cell functions in patients with FOXP3 mutations [J].

Bacchetta, Rosa ;

Passerini, Laura ;

Gambineri, Eleonora ;

Dai, Minyue ;

Allan, Sarah E. ;

Perroni, Lucia ;

Dagna-Bricarelli, Franca ;

Sartirana, Claudia ;

Matthes-Martins, Susanne ;

Lawitschka, Anita ;

Azzari, Chiara ;

Ziegler, Steven F. ;

Levings, Megan K. ;

Roncarolo, Maria Grazia .

JOURNAL OF CLINICAL INVESTIGATION, 2006, 116 (06) :1713-1722

[6] A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome [J].

Bae, Keun Wook ;

Kim, Bo Eun ;

Choi, Jin-Ho ;

Lee, Joo Hoon ;

Park, Young Seo ;

Kim, Gu-Hwan ;

Yoo, Han Wook ;

Seo, Jong Jin .

EUROPEAN JOURNAL OF PEDIATRICS, 2011, 170 (12) :1611-1615

[7]

Bandukwala HS, 2011, IMMUNITY, V34, P479, DOI 10.1016/j.immuni.2011.02.017

[8] Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation [J].

Baud, O ;

Goulet, O ;

Canioni, D ;

Le Deist, F ;

Radford, I ;

Rieu, D ;

Dupuis-Girod, S ;

Cerf-Bensussan, N ;

Cavazzana-Calvo, M ;

Brousse, N ;

Fischer, A ;

Casanova, JL .

NEW ENGLAND JOURNAL OF MEDICINE, 2001, 344 (23) :1758-1762

[9] X-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3 [J].

Bennett, CL ;

Yoshioka, R ;

Kiyosawa, H ;

Barker, DF ;

Fain, PR ;

Shigeoka, AO ;

Chance, PF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (02) :461-468

[10] The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 [J].

Bennett, CL ;

Christie, J ;

Ramsdell, F ;

Brunkow, ME ;

Ferguson, PJ ;

Whitesell, L ;

Kelly, TE ;

Saulsbury, FT ;

Chance, PF ;

Ochs, HD .

NATURE GENETICS, 2001, 27 (01) :20-21

← 1 2 3 4 5 6 7 8 9 10 →