Autoimmune polyendocrine syndromes

ES Husebye - The Rose and Mackay Textbook of Autoimmune …, 2024 - Elsevier
Autoimmune polyendocrinopathies are traditionally divided into two distinct syndromes,
autoimmune polyendocrine syndrome type 1 and 2 (APS-1 and-2). The first is a monogenic …

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

EMN Ferré, MM Schmitt, MS Lionakis - Frontiers in pediatrics, 2021 - frontiersin.org
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known
as autoimmune polyglandular syndrome type-1 (APS-1), is a rare monogenic autoimmune …

Thymic mimetic cells function beyond self-tolerance

T Givony, D Leshkowitz, D Del Castillo, S Nevo… - Nature, 2023 - nature.com
Abstract Development of immunocompetent T cells in the thymus is required for effective
defence against all types of pathogens, including viruses, bacteria and fungi. To this end, T …

Human autoantibodies neutralizing type I IFNs: From 1981 to 2023

P Bastard, A Gervais, T Le Voyer… - Immunological …, 2024 - Wiley Online Library
Human autoantibodies (auto‐Abs) neutralizing type I IFNs were first discovered in a woman
with disseminated shingles and were described by Ion Gresser from 1981 to 1984. They …

A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1

BE Oftedal, AH Berger, Ø Bruserud… - Journal of Clinical …, 2023 - Am Soc Clin Investig
Autoimmune polyendocrine syndrome type 1 (APS-1) is caused by mutations in the
autoimmune regulator (AIRE) gene. Most patients present with severe chronic …

Insm1 regulates mTEC development and immune tolerance

W Tao, Z Ye, Y Wei, J Wang, W Yang, G Yu… - Cellular & Molecular …, 2023 - nature.com
The expression of self-antigens in medullary thymic epithelial cells (mTECs) is essential for
the establishment of immune tolerance, but the regulatory network that controls the …

Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease

Y Gruper, ASB Wolff, L Glanz, F Spoutil… - Nature, 2023 - nature.com
Ameloblasts are specialized epithelial cells in the jaw that have an indispensable role in
tooth enamel formation—amelogenesis. Amelogenesis depends on multiple ameloblast …

Transcriptional regulation of the thymus master regulator Foxn1

N Kadouri, T Givony, S Nevo, J Hey, S Ben Dor… - Science …, 2022 - science.org
FOXN1 is a transcription factor critical for the development of both thymic epithelial cell
(TEC) and hair follicle cell (HFC) compartments. However, mechanisms controlling its …

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

BE Oftedal, K Assing, S Baris, SL Safgren, IS Johansen… - Iscience, 2023 - cell.com
Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease
characterized by severe and childhood onset organ-specific autoimmunity caused by …

Inborn errors of immunity associated with defects of thymic development

F Pala, LD Notarangelo… - Pediatric allergy and …, 2022 - Wiley Online Library
The main function of the thymus is to support the establishment of a wide repertoire of T
lymphocytes capable of eliminating foreign pathogens, yet tolerant to self‐antigens …