Towards gene therapy for IPEX syndrome
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Immunology"
DOI: 10.1002/eji.202149210
Abstract: Immune dysregulation polyendocrinopathy enteropathy X linked (IPEX) syndrome is an uncurable disease of the immune system, with immune dysregulation that is caused by mutations in FOXP3. Current treatment options, such as pharmacological immune suppression and… read more here.
Keywords: ipex syndrome; gene; gene therapy; immune dysregulation ... See more keywords
Infliximab induces clinical resolution of sacroiliitis that coincides with increased circulating FOXP3+ T cells in a patient with IPEX syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "Joint bone spine"
DOI: 10.1016/j.jbspin.2020.04.013
Abstract: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare monogenic primary immunodeficiency due to mutations of FOXP3, a master transcription factor of regulatory T cells (Treg). IPEX syndrome leads to fatal course in most… read more here.
Keywords: infliximab induces; resolution; sacroiliitis; circulating foxp3 ... See more keywords
Fecal microbiota transplantation before hematopoietic stem cell transplantation in a pediatric case of chronic diarrhea with a FOXP3 mutation.
Sign Up to like & getrecommendations! Published in 2020 at "Pediatrics and neonatology"
DOI: 10.1016/j.pedneo.2020.11.003
Abstract: BACKGROUND Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene, often leading to intractable and life-threatening diarrhea. Fecal microbiota transplantation (FMT), has… read more here.
Keywords: microbiota; diarrhea; transplantation; fecal microbiota ... See more keywords
Opinion and Special Articles: Cerebellar Ataxia and Liver Failure Complicating IPEX Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Neurology"
DOI: 10.1212/wnl.0000000000011195
Abstract: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome is an autoimmune condition caused by mutations in the Forkhead Box P3 (FOXP3) gene, which maps to chromosome Xp11.23 (OMIM #304790).1 It typically presents within the first year… read more here.
Keywords: special articles; opinion special; ataxia liver; ipex syndrome ... See more keywords
Case report: Dupilumab treatment improved type 2 disorders in a patient with IPEX syndrome diagnosis
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.995304
Abstract: We described a case of IPEX syndrome successfully controlled with dupilumab, an anti-IL4 receptor alpha subunit inhibitor. IPEX syndrome is a rare and generally fatal genetic disorder characterized by immune dysregulation, polyendocrinopathy and enteropathy, mostly… read more here.
Keywords: ipex syndrome; report; patient; case ... See more keywords
IPEX Syndrome: Genetics and Treatment Options
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12030323
Abstract: (1) Background: IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome characterizes a complex autoimmune reaction beginning in the perinatal period, caused by a dysfunction of the transcription factor forkhead box P3 (FOXP3). (2) Objectives: Studies have… read more here.
Keywords: genetics; treatment options; genetics treatment; ipex syndrome ... See more keywords