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 …

T follicular regulatory cells in the regulation of B cell responses

PT Sage, AH Sharpe - Trends in immunology, 2015 - cell.com
High affinity antibodies result from interactions between B cells and T follicular helper (Tfh)
cells in germinal centers (GCs). Recent studies have identified an effector subset of T …

The X chromosome and immune associated genes

I Bianchi, A Lleo, ME Gershwin, P Invernizzi - Journal of autoimmunity, 2012 - Elsevier
The X chromosome is known to contain the largest number of immune-related genes of the
whole human genome. For this reason, X chromosome has recently become subject of great …

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 …

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 …

Guillain-Barré syndrome: causes, immunopathogenic mechanisms and treatment

AK Jasti, C Selmi, JC Sarmiento-Monroy… - Expert review of …, 2016 - Taylor & Francis
ABSTRACT Introduction: Guillain-Barré syndrome is a rare disease representing the most
frequent cause of acute flaccid symmetrical weakness of the limbs and areflexia usually …

Mutations from patients with IPEX ported to mice reveal different patterns of FoxP3 and Treg dysfunction

J Leon, K Chowdhary, W Zhang, RN Ramirez, I André… - Cell reports, 2023 - cell.com
Mutations of the transcription factor FoxP3 in patients with" IPEX"(immune dysregulation,
polyendocrinopathy, enteropathy, X-linked syndrome) disrupt regulatory T cells (Treg) …

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 …

Cellular and molecular mechanisms of autoimmune hepatitis

GJ Webb, GM Hirschfield, EL Krawitt… - Annual Review of …, 2018 - annualreviews.org
Autoimmune hepatitis is an uncommon idiopathic syndrome of immune-mediated
destruction of hepatocytes, typically associated with autoantibodies. The disease etiology is …

B cells in Sjögren's syndrome: from pathophysiology to diagnosis and treatment

D Cornec, V Devauchelle-Pensec, GJ Tobón… - Journal of …, 2012 - Elsevier
Primary Sjögren's syndrome (pSS) is a chronic autoimmune systemic disease, characterized
by a lymphoplasmocytic infiltration and a progressive destruction of salivary and lachrymal …