Journal ArticleDOI
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
Craig L. Bennett,Jacinda R. Christie,Fred Ramsdell,Mary E. Brunkow,Polly J. Ferguson,Luke Whitesell,Thaddeus E. Kelly,Frank T. Saulsbury,Phillip F. Chance,Hans D. Ochs +9 more
TLDR
Genetic evidence is presented that different mutations of the human gene FOXP3, the ortholog of the gene mutated in scurfy mice (Foxp3), causes IPEX syndrome.Abstract:
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.read more
Citations
More filters
Journal ArticleDOI
Control of Regulatory T Cell Development by the Transcription Factor Foxp3
TL;DR: Foxp3, which encodes a transcription factor that is genetically defective in an autoimmune and inflammatory syndrome in humans and mice, is specifically expressed in naturally arising CD4+ regulatory T cells and retroviral gene transfer of Foxp3 converts naïve T cells toward a regulatory T cell phenotype similar to that of naturally occurring CD4+.
Journal ArticleDOI
Foxp3 programs the development and function of CD4 + CD25 + regulatory T cells
TL;DR: It is reported that the forkhead transcription factor Foxp3 is specifically expressed in CD4+CD25+ regulatory T cells and is required for their development and function and ectopic expression ofFoxp3 confers suppressor function on peripheral CD4-CD25− T cells.
Journal ArticleDOI
Naturally Arising CD4+ Regulatory T Cells for Immunologic Self-Tolerance and Negative Control of Immune Responses
TL;DR: How naturally arising CD25+CD4+ regulatory T cells contribute to the maintenance of immunologic self-tolerance and negative control of various immune responses, and how they can be exploited to prevent and treat autoimmune disease, allergy, cancer, and chronic infection, or establish donor-specific transplantation tolerance are discussed.
Journal ArticleDOI
Differentiation of Effector CD4 T Cell Populations
TL;DR: This review summarizes the discovery, functions, and relationships among Th cells; the cytokine and signaling requirements for their development; the networks of transcription factors involved in their differentiation; the epigenetic regulation of their key cytokines and transcription factors; and human diseases involving defective CD4 T cell differentiation.
Journal ArticleDOI
An essential role for Scurfin in CD4+CD25+ T regulatory cells.
TL;DR: It is shown that Foxp3 is highly expressed by TR cells and is associated with TR cell activity and phenotype, indicating that the Scurfin and CTLA-4 pathways may intersect and providing further insight into the TR cell lineage.
References
More filters
Journal ArticleDOI
Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse.
Mary E. Brunkow,Jeffery Ew,Hjerrild Ka,Bryan W. Paeper,L B Clark,Yasayko Sa,John E. Wilkinson,David J. Galas,Steven F. Ziegler,Fred Ramsdell +9 more
TL;DR: Genetic complementation demonstrates that the protein product of Foxp3, scurfin, is essential for normal immune homeostasis.
Journal ArticleDOI
Unified nomenclature for the winged helix/forkhead transcription factors
TL;DR: The winged helix/forkhead class of transcription factors is characterized by a 100-amino-acid, monomeric DNAbinding domain, which folds into a variant of the helix–turn–helix motif and is made up of three a helices and two characteristic large loops, or “wings.”
Journal ArticleDOI
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
Darryl Y. Nishimura,Ruth E. Swiderski,Wallace L.M. Alward,Charles Searby,Shivanand R. Patil,Steven R. Bennet,Adam B. Kanis,Julie M. Gastier,Edwin M. Stone,Val C. Sheffield,Val C. Sheffield +10 more
TL;DR: FKHL7, encoding a forkhead transcription factor, is in close proximity to the breakpoint in the balanced translocation patient and is deleted in a second PCG patient with partial 6p monosomy, demonstrating that mutations in FKHL 7 cause a spectrum of glaucoma phenotypes.
Journal ArticleDOI
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
Roderick J. Clifton-Bligh,John M. Wentworth,Peter Heinz,Michele S. Crisp,Rhys John,John H. Lazarus,Marian Ludgate,V. Krishna K. Chatterjee +7 more
TL;DR: The transcription factor FKHL15 (ref. 11) is the human homologue of mouse TTF-2 (encoded by the Titf2 gene) and that two siblings with thyroid agenesis, cleft palate and choanal atresia are homozygous for a missense mutation (Ala65Val) within its forkhead domain.
Journal ArticleDOI
An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy
TL;DR: The clinical characteristics of this disorder were established from information from eight patients, and involvement of an immune response locus on the X chromosome, dysfunction of which is responsible for overactivity of the autoimmune system, is postulated.