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 …

FOXP3 deficiency, from the mechanisms of the disease to curative strategies

S Borna, E Meffre, R Bacchetta - Immunological Reviews, 2024 - Wiley Online Library
FOXP3 gene is a key transcription factor driving immune tolerance and its deficiency causes
immune dysregulation, polyendocrinopathy, enteropathy X‐linked syndrome (IPEX), a …

Clinical, immunological, and genetic features in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-like syndrome

M Jamee, M Zaki-Dizaji, B Lo, H Abolhassani… - The Journal of Allergy …, 2020 - Elsevier
Background Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)
syndrome is a rare inborn error of immunity caused by mutations in the forkhead box P3 …

[HTML][HTML] Intervention of resistant starch 3 on type 2 diabetes mellitus and its mechanism based on urine metabonomics by liquid chromatography-tandem mass …

C Zhang, L Dong, J Wu, S Qiao, W Xu, S Ma… - Biomedicine & …, 2020 - Elsevier
As a severe metabolic disease, type 2 diabetes mellitus (T2DM) has aroused increasing
public attentions. Resistant starch 3 (RS3), as a starch resistant to enzymatic hydrolysis …

Clinical heterogeneity of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: a French multicenter retrospective study

R Duclaux-Loras, F Charbit-Henrion… - Clinical and …, 2018 - journals.lww.com
Objective: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)
syndrome is an autoimmune disease caused by mutations in the forkhead box protein 3 …

Gastrointestinal disorders associated with primary immunodeficiency diseases

S Hartono, MR Ippoliti, M Mastroianni, R Torres… - Clinical reviews in …, 2019 - Springer
There are now 354 inborn errors of immunity (primary immunodeficiency diseases (PIDDs))
with 344 distinct molecular etiologies reported according to the International Union of …

[HTML][HTML] Too much of a good thing: a review of primary immune regulatory disorders

C Tsilifis, MA Slatter, AR Gennery - Frontiers in Immunology, 2023 - frontiersin.org
Primary immune regulatory disorders (PIRDs) are inborn errors of immunity caused by a loss
in the regulatory mechanism of the inflammatory or immune response, leading to impaired …

Monogenic polyautoimmunity in primary immunodeficiency diseases

G Azizi, R Yazdani, W Rae, H Abolhassani, M Rojas… - Autoimmunity …, 2018 - Elsevier
Primary immunodeficiency diseases (PIDs) consist of a large group of genetic disorders that
affect distinct components of the immune system. PID patients are susceptible to infection …

[HTML][HTML] IL-2 Signaling axis defects: how many faces?

F Consonni, C Favre, E Gambineri - Frontiers in Pediatrics, 2021 - frontiersin.org
CD25, Signal transducer and activator of transcription 5B (STAT5B) and Forkhead box P3
(FOXP3) are critical mediators of Interleukin-2 (IL-2) signaling pathway in regulatory T cells …

Autoimmune polyendocrine syndromes (APS) or multiple autoimmune syndromes (MAS) an overview

C Betterle, C Sabbadin, C Scaroni… - … disorders and endocrine …, 2021 - Springer
On the basis of the revised criteria of diagnosis of autoimmune diseases (AID), more than 80
diseases previously considered as “idiopathic” have been defined as “autoimmune” and …