Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity
G Sogkas, F Atschekzei, IR Adriawan… - Cellular & Molecular …, 2021 - nature.com
In addition to susceptibility to infections, conventional primary immunodeficiency disorders
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …
Regulatory T cells and immunoglobulin E: a new therapeutic link for autoimmunity?
O Palomares, D Elewaut, PM Irving, X Jaumont… - Allergy, 2022 - Wiley Online Library
Autoimmune diseases have a prevalence of approximately 7 to 9% and are classified as
either organ‐specific diseases, including type I diabetes, multiple sclerosis, inflammatory …
either organ‐specific diseases, including type I diabetes, multiple sclerosis, inflammatory …
High-yield genome engineering in primary cells using a hybrid ssDNA repair template and small-molecule cocktails
Enhancing CRISPR-mediated site-specific transgene insertion efficiency by homology-
directed repair (HDR) using high concentrations of double-stranded DNA (dsDNA) with …
directed repair (HDR) using high concentrations of double-stranded DNA (dsDNA) with …
Therapeutic options for CTLA-4 insufficiency
D Egg, IC Rump, N Mitsuiki, J Rojas-Restrepo… - Journal of Allergy and …, 2022 - Elsevier
Background Heterozygous germline mutations in cytotoxic T lymphocyte–associated antigen-
4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals …
4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals …
Mutations from patients with IPEX ported to mice reveal different patterns of FoxP3 and Treg dysfunction
Mutations of the transcription factor FoxP3 in patients with" IPEX"(immune dysregulation,
polyendocrinopathy, enteropathy, X-linked syndrome) disrupt regulatory T cells (Treg) …
polyendocrinopathy, enteropathy, X-linked syndrome) disrupt regulatory T cells (Treg) …
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 …
immune dysregulation, polyendocrinopathy, enteropathy X‐linked syndrome (IPEX), a …
Inborn errors of immunity manifesting as atopic disorders
M Vaseghi-Shanjani, KL Smith, RJ Sara… - Journal of Allergy and …, 2021 - Elsevier
Inborn errors of immunity are traditionally best known for enhancing susceptibility to
infections. However, allergic inflammation, among other types of immune dysregulation …
infections. However, allergic inflammation, among other types of immune dysregulation …
IPEX syndrome: improved knowledge of immune pathogenesis empowers diagnosis
F Barzaghi, L Passerini - Frontiers in pediatrics, 2021 - frontiersin.org
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare
monogenic autoimmune disease with variable clinical manifestations, ranging from early …
monogenic autoimmune disease with variable clinical manifestations, ranging from early …
Atypical presentations of IPEX: expect the unexpected
F Consonni, S Ciullini Mannurita… - Frontiers in Pediatrics, 2021 - frontiersin.org
Immune dysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome is a
rare disorder that has become a model of monogenic autoimmunity. IPEX is caused by …
rare disorder that has become a model of monogenic autoimmunity. IPEX is caused by …
[HTML][HTML] Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry
Monogenic immune dysregulation diseases (MIDD) are caused by defective
immunotolerance. This study was designed to increase knowledge on the prevalence and …
immunotolerance. This study was designed to increase knowledge on the prevalence and …