|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the case of a 16-year-old adolescent with late-onset of FOXP3 R347H mutation associated IPEX syndrome with T1D, where insulin dependency was ameliorated following HSCT.
|
31322807 |
2019 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified an IPEX (immune dysregulation polyendocrinopathy enteropathy X-linked) syndrome patient with a FOXP3 mutation in the domain swap interface of the protein.
|
30709738 |
2019 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Lentiviral Gene Therapy in HSCs Restores Lineage-Specific Foxp3 Expression and Suppresses Autoimmunity in a Mouse Model of IPEX Syndrome.
|
30639036 |
2019 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome.
|
29400909 |
2018 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we describe the phenotype of male neonates and infants who had insulin-requiring diabetes without other features of IPEX syndrome and were found to have mutations in FOXP3.
|
29193502 |
2018 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We sought to elucidate the target autoantigens in the skin under the condition of Treg cell dysfunction caused by forkhead box P3 (Foxp3) gene mutations in scurfy mice and patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.
|
29704593 |
2018 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We sought to evaluate the effect of reduced FOXP3 expression on human Treg and Teff cell development and correlate it with IPEX syndrome immune pathology.
|
29705245 |
2018 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present the case of a boy with metaplastic atrophic gastritis in whom immune dysregulation, polyendocrinopathy, enteropathy, X-linked(IPEX) syndrome was confirmed by FOXP3 gene mutation.
|
29907148 |
2018 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
<b>Methods:</b> We reviewed the clinical presentation and laboratory characteristics of each patient and compared clinical and laboratory data of <i>FOXP3</i> mutation-positive (IPEX patients) with those from <i>FOXP3</i> mutation-negative patients (IPEX-like).
|
30443250 |
2018 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation.
|
26918796 |
2018 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FOXP3 mutations are associated with immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome which exclusively affects males and may present with a potentially life-threatening complex autoimmune disorder in early childhood.
|
28833278 |
2017 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.
|
27302973 |
2017 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a 6-year-old boy with late-onset IPEX syndrome due to a c.1190G>A (p. R397Q) mutation in exon 11 of the FOXP3 gene.
|
29312905 |
2017 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Moreover, they formally prove the need of preserving endogenous FOXP3 regulation for an HSC-based gene therapy approach for IPEX syndrome.
|
29150659 |
2017 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Suppression by human FOXP3+ regulatory T cells requires FOXP3-TIP60 interactions.
|
28783662 |
2017 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analyses of a Mutant Foxp3 Allele Reveal BATF as a Critical Transcription Factor in the Differentiation and Accumulation of Tissue Regulatory T Cells.
|
28778586 |
2017 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
|
28425981 |
2017 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.
|
27302973 |
2017 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX) is a lethal autoimmune disease caused by mutations in the Foxp3 gene scurfin (scurfy).
|
28887914 |
2017 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
IPEX syndrome is caused by pathogenic alterations in FOXP3 located at Xp11.23.
|
28317311 |
2017 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
AHR Activation Is Protective against Colitis Driven by T Cells in Humanized Mice.
|
27783946 |
2016 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We used immunohistochemical staining to analyze cell types infiltrating the tissue of affected organs from a classic IPEX patient with a splicing mutation (c.736-2A>C) in the FOXP3 gene.
|
26748735 |
2016 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
While females who carry FOXP3 mutations are typically asymptomatic, pregnancy loss of male fetuses in families with a history of IPEX syndrome has been noted.
|
26395338 |
2016 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome.
|
26748374 |
2016 |
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
While females who carry FOXP3 mutations are typically asymptomatic, pregnancy loss of male fetuses in families with a history of IPEX syndrome has been noted.
|
26395338 |
2016 |