[HTML][HTML] The diagnostic approach to monogenic very early onset inflammatory bowel disease
HH Uhlig, T Schwerd, S Koletzko, N Shah… - Gastroenterology, 2014 - Elsevier
Patients with a diverse spectrum of rare genetic disorders can present with inflammatory
bowel disease (monogenic IBD). Patients with these disorders often develop symptoms …
bowel disease (monogenic IBD). Patients with these disorders often develop symptoms …
From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation
R Bacchetta, F Barzaghi… - Annals of the New York …, 2018 - Wiley Online Library
Immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome is a
rare disorder that increasingly has gained attention as a model of genetic autoimmunity …
rare disorder that increasingly has gained attention as a model of genetic autoimmunity …
[HTML][HTML] Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study
Background Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX)
syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a …
syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a …
Clinical, immunological, and molecular heterogeneity of 173 patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) …
E Gambineri, S Ciullini Mannurita, D Hagin… - Frontiers in …, 2018 - frontiersin.org
Background: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX)
Syndrome is a rare recessive disorder caused by mutations in the FOXP3 gene. In addition …
Syndrome is a rare recessive disorder caused by mutations in the FOXP3 gene. In addition …
Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity
F Barzaghi, L Passerini, R Bacchetta - Frontiers in immunology, 2012 - frontiersin.org
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare
monogenic primary immunodeficiency (PID) due to mutations of FOXP3, a key transcription …
monogenic primary immunodeficiency (PID) due to mutations of FOXP3, a key transcription …
Tregopathies: monogenic diseases resulting in regulatory T-cell deficiency
Monogenic diseases of the immune system, also known as inborn errors of immunity, are
caused by single-gene mutations resulting in immune deficiency and dysregulation. More …
caused by single-gene mutations resulting in immune deficiency and dysregulation. More …
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: a systematic review
JH Park, KH Lee, B Jeon, HD Ochs, JS Lee… - Autoimmunity …, 2020 - Elsevier
Background Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)
syndrome is a monogenic disorder characterized by early onset fatal multi-system …
syndrome is a monogenic disorder characterized by early onset fatal multi-system …
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases
JW Verbsky, TA Chatila - Current opinion in pediatrics, 2013 - journals.lww.com
An expanding spectrum of genetic defects that compromise T regulatory cell function
underlies human disorders of immune dysregulation and autoimmunity. Collectively, these …
underlies human disorders of immune dysregulation and autoimmunity. Collectively, these …
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene
TR Torgerson, A Linane, N Moes, S Anover, V Mateo… - Gastroenterology, 2007 - Elsevier
Background & Aims: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked
(IPEX; OMIM 304930) syndrome is a congenital syndrome characterized by autoimmune …
(IPEX; OMIM 304930) syndrome is a congenital syndrome characterized by autoimmune …
Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation …
E Gambineri, L Perroni, L Passerini, L Bianchi… - Journal of Allergy and …, 2008 - Elsevier
BACKGROUND: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)
syndrome is an autoimmune genetic disorder caused by mutation of the forkhead box …
syndrome is an autoimmune genetic disorder caused by mutation of the forkhead box …