The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

被引：2544

作者：

Bennett, CL

Christie, J

Ramsdell, F

Brunkow, ME

Ferguson, PJ

Whitesell, L

Kelly, TE

Saulsbury, FT

Chance, PF

Ochs, HD ^{[1
]}

机构：

[1] Univ Washington, Dept Pediat, Div Immunol Infect Dis & Rheumatol, Seattle, WA 98195 USA

[2] Celltech Chirosci Inc, Bothell, WA USA

[3] Univ Washington, Div Genet & Dev, Seattle, WA 98195 USA

[4] Univ Alabama, Dept Pediat, Birmingham, AL USA

[5] Univ Arizona, Steele Mem Childrens Res Ctr, Dept Pediat, Tucson, AZ USA

[6] Univ Virginia, Dept Pediat, Charlottesville, VA USA

来源：

NATURE GENETICS | 2001年 / 27卷 / 01期

关键词：

D O I：

10.1038/83713

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

IPEX is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance (MIM 304930). We present genetic evidence that different mutations of the human gene FOXP3, the ortholog of the gene mutated in scurfy mice (Foxp3), causes IPEX syndrome. Recent linkage analysis studies mapped the gene mutated in IPEX to an interval of 17-20-cM at Xp11.23-Xq13.3 (refs. 1,2).

引用

收藏

页码：20 / 21

页数：2

相关论文

共 11 条

[1] 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

[2] Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse [J].

Brunkow, ME ;

Jeffery, EW ;

Hjerrild, KA ;

Paeper, B ;

Clark, LB ;

Yasayko, SA ;

Wilkinson, JE ;

Galas, D ;

Ziegler, SF ;

Ramsdell, F .

NATURE GENETICS, 2001, 27 (01) :68-73

[3] Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia [J].

Clifton-Bligh, RJ ;

Wentworth, JM ;

Heinz, P ;

Crisp, MS ;

John, R ;

Lazarus, JH ;

Ludgate, M ;

Chatterjee, VK .

NATURE GENETICS, 1998, 19 (04) :399-401

[4]

Ferguson PJ, 2000, AM J MED GENET, V90, P390, DOI 10.1002/(SICI)1096-8628(20000228)90:5<390::AID-AJMG9>3.0.CO

[5]

2-M

[6]

Kaestner KH, 2000, GENE DEV, V14, P142

[7] THE SCURFY MOUSE MUTANT HAS PREVIOUSLY UNRECOGNIZED HEMATOLOGICAL ABNORMALITIES AND RESEMBLES WISKOTT-ALDRICH SYNDROME [J].

LYON, MF ;

PETERS, J ;

GLENISTER, PH ;

BALL, S ;

WRIGHT, E .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (07) :2433-2437

[8] Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly [J].

Mears, AJ ;

Jordan, T ;

Mirzayans, F ;

Dubois, S ;

Kume, P ;

Parlee, M ;

Ritch, R ;

Koop, B ;

Kuo, WL ;

Collins, C ;

Marshall, J ;

Gould, DB ;

Pearce, W ;

Carlsson, P ;

Enerbäck, S ;

Morissette, J ;

Bhattacharya, S ;

Hogan, B ;

Raymond, V ;

Walter, MA .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (05) :1316-1328

[9] Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25 [J].

Mirzayans, F ;

Gould, DB ;

Héon, E ;

Billingsley, GD ;

Cheung, JC ;

Mears, AJ ;

Walter, MA .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (01) :71-74

[10] The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25 [J].

Nishimura, DY ;

Swiderski, RE ;

Alward, WLM ;

Searby, CC ;

Patil, SR ;

Bennet, SR ;

Kanis, AB ;

Gastier, JM ;

Stone, EM ;

Sheffield, VC .

NATURE GENETICS, 1998, 19 (02) :140-147