Here, we report the case of a 16-year-old adolescent with late-onset of FOXP3R347H mutation associated IPEX syndrome with T1D, where insulin dependency was ameliorated following HSCT.
We identified an IPEX (immune dysregulation polyendocrinopathy enteropathy X-linked) syndrome patient with a FOXP3 mutation in the domain swap interface of the protein.
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.
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.
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.
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.
<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).
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.
Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX) is a lethal autoimmune disease caused by mutations in the Foxp3 gene scurfin (scurfy).
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.
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.
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.