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 language | English (US) |
|---|---|
| Journal | Autoimmunity Reviews |
| DOIs | |
| State | Accepted/In press - Jan 1 2017 |
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Keywords
- AIRE
- APS-1
- Autoimmunity
- Epigenetics
- Genetics
- Immune dysregulation
ASJC Scopus subject areas
- Immunology and Allergy
- Immunology
Cite this
The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1). / Guo, Can Jie; Leung, Patrick S; Zhang, Weici; Ma, Xiong; Gershwin, M. Eric.
In: Autoimmunity Reviews, 01.01.2017.Research output: Contribution to journal › Article
}
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 -