|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.
|
25326164 |
2014 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome due to a de novo c.1190G>A (p.R397Q) mutation in exon 11 of the forkhead domain of the FOXP3 gene.
|
23534934 |
2014 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare autoimmune disease due to mutations in the gene encoding for Forkhead box P3 (FOXP3), a transcription factor fundamental for the function of thymus-derived (t) regulatory T (Treg) cells.
|
25274247 |
2014 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Taking advantage of natural Foxp3 mutant scurfy (sf) mice closely resembling the IPEX syndrome, and genetically engineered mice depleted of Foxp3(+) Tregs, we report here that anti-CD4 treatment induces tolerance independent of Foxp3(+) Tregs.
|
24075450 |
2014 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We therefore applied this FOXP3 gene transfer strategy for the development of a T(reg) cell-based therapeutic approach to restore tolerance in IPEX syndrome.
|
24337481 |
2013 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations of FOXP3 cause immunodysregulation, polyendocrinopathy, and enteropathy, X-linked syndrome.
|
23313429 |
2013 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This theory has been supported by observations in patients with primary immunodeficiencies such as the Wiskott-Aldrich syndrome and IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome).
|
21997382 |
2012 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Immune dysregulation, Polyendocrinopathy, Enteropathy X-linked (IPEX) syndrome is a unique example of primary immunodeficiency characterized by autoimmune manifestations due to defective regulatory T (Treg) cells, in the presence of FOXP3 mutations.
|
22264504 |
2012 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Diagnostic studies revealed a one-codon deletion in the FoxP3 gene, which led to the diagnosis of immune dysregulation polyendocrinopathy, enteropathy X-linked syndrome.
|
21262102 |
2011 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Individuals harboring mutations in FOXP3 develop immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX).
|
21865090 |
2011 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Overall, our results (i) show that functional Tr1 cells differentiate independently of FOXP3, (ii) confirm that human Tr1 and nTregs are distinct T-cell lineages, and (iii) suggest that under favorable conditions Tr1 cells could exert regulatory functions in IPEX patients.
|
21400500 |
2011 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We conclude that FOXP3-mediated suppressor function requires dimerization through the forkhead domain and that mutations in the dimer interface can lead to the systemic autoimmunity observed in IPEX patients.
|
21458306 |
2011 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
|
21802372 |
2011 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is characterized by severe systemic autoimmunity caused by mutations in the forkhead box protein 3 (FOXP3) gene.
|
20643476 |
2010 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.
|
20842625 |
2010 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the FOXP3 gene interfere with Treg cell development and cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
|
19410687 |
2009 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
FOXP3 sequencing should be performed in any male patient with the diagnosis of diabetes in the first 6 months who develops other possible autoimmune-associated conditions, even in the absence of full IPEX syndrome.
|
18931102 |
2009 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This report describes a 5-year-old boy with IPEX syndrome with a 3 bp deletion in the FOXP3 gene (c.748-750delAAG, p.250K.del) and a paucity of CD4(+) CD25(+) FOXP3(+) T cells.
|
19189134 |
2009 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
IPEX syndrome is caused by mutations in FOXP3, a master control gene of regulatory T cells (Tregs), resulting in absent or dysfunctional Tregs.
|
18795917 |
2009 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the Foxp3 gene causes the scurfy phenotype in mouse and IPEX syndrome (immune dysfunction, polyendocrinopathy, enteropathy, X-linked syndrome) in humans.
|
19641188 |
2009 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
An 8-months-old male infant with a mutation in the polyadenylation site of FOXP3 gene, absence of FOXP3 protein expression and clinical manifestations of IPEX syndrome, including eczema, colitis, failure to thrive, TPN requirement, and elevated serum IgE, underwent matched unrelated hematopoietic stem cell transplant.
|
19471859 |
2009 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Striking platelet abnormalities were observed in both an IPEX patient and Foxp3(sf) mice.
|
19661482 |
2009 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In 14 unrelated affected male subjects who were given diagnoses of IPEX syndrome based on FOXP3 gene sequencing, we determined whether particular FOXP3 mutations affected FOXP3 protein expression and correlated the molecular and clinical data.
|
18951619 |
2008 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Therefore genetic analysis of FOXP3 should always be performed to ensure an accurate diagnosis, and FOXP3 protein expression analysis should not be the only diagnostic tool for IPEX syndrome.
|
18951619 |
2008 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Immune reconstitution and recovery of FOXP3 (forkhead box P3)-expressing T cells after transplantation for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome.
|
18316354 |
2008 |