The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1)

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Autoimmune Polyglandular Syndrome type 1 (APS-1) is a subtype of the autoimmune polyendocrine syndrome characterized by the simultaneous or sequential dysfunction of multiple endocrine or non-endocrine glands. A clinical diagnosis of APS-1 is typically based on the presence of at least two of three following criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. The first identified causative mutated gene for APS-1 is autoimmune regulator (AIRE) encoding a critical transcription factor, which is primarily expressed in the medullary thymic epithelial cells (mTECs) for generating central immune tolerance. A wide range of chronic, debilitating complications, with no obvious correlation with genetics, makes a diagnosis of APS-1 challenging early in the disease course. Managing APS-1 is difficult due to its complexity, especially the intricate relationships within manifestations and genetic mutations. The past decades have witnessed dramatic progress in elucidating the function of AIRE and conducting large-scale cohort studies in APS-1. However, no clear evidence-based guidelines have been established in APS-1. In this review, we provide a detailed critical overview of the study history, epidemiology, clinical features, and related mechanisms of autoimmunity in APS-1, as well as currently available therapies for this autoimmune disorder.

Original languageEnglish (US)
JournalAutoimmunity Reviews
DOIs
StateAccepted/In press - Jan 1 2017

Fingerprint

Autoimmune Polyendocrinopathies
Chronic Mucocutaneous Candidiasis
Central Tolerance
Hypoparathyroidism
Adrenal Insufficiency
Immune Tolerance
Autoimmunity
Epidemiology
Cohort Studies
Transcription Factors
History
Epithelial Cells
Guidelines
Mutation

Keywords

  • AIRE
  • APS-1
  • Autoimmunity
  • Epigenetics
  • Genetics
  • Immune dysregulation

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

@article{6978b442a54b4efebbaa6afbc1cc725f,
title = "The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1)",
abstract = "Autoimmune Polyglandular Syndrome type 1 (APS-1) is a subtype of the autoimmune polyendocrine syndrome characterized by the simultaneous or sequential dysfunction of multiple endocrine or non-endocrine glands. A clinical diagnosis of APS-1 is typically based on the presence of at least two of three following criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. The first identified causative mutated gene for APS-1 is autoimmune regulator (AIRE) encoding a critical transcription factor, which is primarily expressed in the medullary thymic epithelial cells (mTECs) for generating central immune tolerance. A wide range of chronic, debilitating complications, with no obvious correlation with genetics, makes a diagnosis of APS-1 challenging early in the disease course. Managing APS-1 is difficult due to its complexity, especially the intricate relationships within manifestations and genetic mutations. The past decades have witnessed dramatic progress in elucidating the function of AIRE and conducting large-scale cohort studies in APS-1. However, no clear evidence-based guidelines have been established in APS-1. In this review, we provide a detailed critical overview of the study history, epidemiology, clinical features, and related mechanisms of autoimmunity in APS-1, as well as currently available therapies for this autoimmune disorder.",
keywords = "AIRE, APS-1, Autoimmunity, Epigenetics, Genetics, Immune dysregulation",
author = "Guo, {Can Jie} and Leung, {Patrick S} and Weici Zhang and Xiong Ma and Gershwin, {M. Eric}",
year = "2017",
month = "1",
day = "1",
doi = "10.1016/j.autrev.2017.11.012",
language = "English (US)",
journal = "Autoimmunity Reviews",
issn = "1568-9972",
publisher = "Elsevier",

}

TY - JOUR

T1 - The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1)

AU - Guo, Can Jie

AU - Leung, Patrick S

AU - Zhang, Weici

AU - Ma, Xiong

AU - Gershwin, M. Eric

PY - 2017/1/1

Y1 - 2017/1/1

N2 - Autoimmune Polyglandular Syndrome type 1 (APS-1) is a subtype of the autoimmune polyendocrine syndrome characterized by the simultaneous or sequential dysfunction of multiple endocrine or non-endocrine glands. A clinical diagnosis of APS-1 is typically based on the presence of at least two of three following criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. The first identified causative mutated gene for APS-1 is autoimmune regulator (AIRE) encoding a critical transcription factor, which is primarily expressed in the medullary thymic epithelial cells (mTECs) for generating central immune tolerance. A wide range of chronic, debilitating complications, with no obvious correlation with genetics, makes a diagnosis of APS-1 challenging early in the disease course. Managing APS-1 is difficult due to its complexity, especially the intricate relationships within manifestations and genetic mutations. The past decades have witnessed dramatic progress in elucidating the function of AIRE and conducting large-scale cohort studies in APS-1. However, no clear evidence-based guidelines have been established in APS-1. In this review, we provide a detailed critical overview of the study history, epidemiology, clinical features, and related mechanisms of autoimmunity in APS-1, as well as currently available therapies for this autoimmune disorder.

AB - Autoimmune Polyglandular Syndrome type 1 (APS-1) is a subtype of the autoimmune polyendocrine syndrome characterized by the simultaneous or sequential dysfunction of multiple endocrine or non-endocrine glands. A clinical diagnosis of APS-1 is typically based on the presence of at least two of three following criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. The first identified causative mutated gene for APS-1 is autoimmune regulator (AIRE) encoding a critical transcription factor, which is primarily expressed in the medullary thymic epithelial cells (mTECs) for generating central immune tolerance. A wide range of chronic, debilitating complications, with no obvious correlation with genetics, makes a diagnosis of APS-1 challenging early in the disease course. Managing APS-1 is difficult due to its complexity, especially the intricate relationships within manifestations and genetic mutations. The past decades have witnessed dramatic progress in elucidating the function of AIRE and conducting large-scale cohort studies in APS-1. However, no clear evidence-based guidelines have been established in APS-1. In this review, we provide a detailed critical overview of the study history, epidemiology, clinical features, and related mechanisms of autoimmunity in APS-1, as well as currently available therapies for this autoimmune disorder.

KW - AIRE

KW - APS-1

KW - Autoimmunity

KW - Epigenetics

KW - Genetics

KW - Immune dysregulation

UR - http://www.scopus.com/inward/record.url?scp=85034979945&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85034979945&partnerID=8YFLogxK

U2 - 10.1016/j.autrev.2017.11.012

DO - 10.1016/j.autrev.2017.11.012

M3 - Article

C2 - 29108822

AN - SCOPUS:85034979945

JO - Autoimmunity Reviews

JF - Autoimmunity Reviews

SN - 1568-9972

ER -