Autoimmune polyglandular syndrome type 1 and the autoimmune regulator

Qing Guo Ruan, Jin-Xiong She

Research output: Contribution to journalReview article

16 Citations (Scopus)

Abstract

The autoimmune polyglandular syndrome type 1 (APS1) is an autosomal recessive disorder that is characterized by chronic mucocutaneous candidiasis, multiple autoimmune endocrinopathies, and ectodermal dystrophies. The gene that is responsible for APS1 has been identified as autoimmune regulator (AIRE). More than 50 different mutations have been discovered in patients who have APS1 and the defects include nonsense and missense mutations, small insertions and deletions that lead to frameshift, and splice site mutations. The 545 -amino acid protein that is encoded by AIRE contains several structural motifs that are suggestive of a transcriptional regulator. We provide an overview of the clinical and genetic features of APS1 as well as the structure and functions of the AIRE protein.

Original languageEnglish (US)
Pages (from-to)305-317
Number of pages13
JournalClinics in Laboratory Medicine
Volume24
Issue number1
DOIs
StatePublished - Mar 1 2004

Fingerprint

Autoimmune Polyendocrinopathies
Proteins
Chronic Mucocutaneous Candidiasis
Genes
Amino Acids
Defects
Mutation
Nonsense Codon
Missense Mutation

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Autoimmune polyglandular syndrome type 1 and the autoimmune regulator. / Ruan, Qing Guo; She, Jin-Xiong.

In: Clinics in Laboratory Medicine, Vol. 24, No. 1, 01.03.2004, p. 305-317.

Research output: Contribution to journalReview article

@article{26cd9795a5cb44bd8b68d75ddef91e87,
title = "Autoimmune polyglandular syndrome type 1 and the autoimmune regulator",
abstract = "The autoimmune polyglandular syndrome type 1 (APS1) is an autosomal recessive disorder that is characterized by chronic mucocutaneous candidiasis, multiple autoimmune endocrinopathies, and ectodermal dystrophies. The gene that is responsible for APS1 has been identified as autoimmune regulator (AIRE). More than 50 different mutations have been discovered in patients who have APS1 and the defects include nonsense and missense mutations, small insertions and deletions that lead to frameshift, and splice site mutations. The 545 -amino acid protein that is encoded by AIRE contains several structural motifs that are suggestive of a transcriptional regulator. We provide an overview of the clinical and genetic features of APS1 as well as the structure and functions of the AIRE protein.",
author = "Ruan, {Qing Guo} and Jin-Xiong She",
year = "2004",
month = "3",
day = "1",
doi = "10.1016/j.cll.2004.01.008",
language = "English (US)",
volume = "24",
pages = "305--317",
journal = "Clinics in Laboratory Medicine",
issn = "0272-2712",
publisher = "W.B. Saunders Ltd",
number = "1",

}

TY - JOUR

T1 - Autoimmune polyglandular syndrome type 1 and the autoimmune regulator

AU - Ruan, Qing Guo

AU - She, Jin-Xiong

PY - 2004/3/1

Y1 - 2004/3/1

N2 - The autoimmune polyglandular syndrome type 1 (APS1) is an autosomal recessive disorder that is characterized by chronic mucocutaneous candidiasis, multiple autoimmune endocrinopathies, and ectodermal dystrophies. The gene that is responsible for APS1 has been identified as autoimmune regulator (AIRE). More than 50 different mutations have been discovered in patients who have APS1 and the defects include nonsense and missense mutations, small insertions and deletions that lead to frameshift, and splice site mutations. The 545 -amino acid protein that is encoded by AIRE contains several structural motifs that are suggestive of a transcriptional regulator. We provide an overview of the clinical and genetic features of APS1 as well as the structure and functions of the AIRE protein.

AB - The autoimmune polyglandular syndrome type 1 (APS1) is an autosomal recessive disorder that is characterized by chronic mucocutaneous candidiasis, multiple autoimmune endocrinopathies, and ectodermal dystrophies. The gene that is responsible for APS1 has been identified as autoimmune regulator (AIRE). More than 50 different mutations have been discovered in patients who have APS1 and the defects include nonsense and missense mutations, small insertions and deletions that lead to frameshift, and splice site mutations. The 545 -amino acid protein that is encoded by AIRE contains several structural motifs that are suggestive of a transcriptional regulator. We provide an overview of the clinical and genetic features of APS1 as well as the structure and functions of the AIRE protein.

UR - http://www.scopus.com/inward/record.url?scp=2442584557&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=2442584557&partnerID=8YFLogxK

U2 - 10.1016/j.cll.2004.01.008

DO - 10.1016/j.cll.2004.01.008

M3 - Review article

C2 - 15157567

AN - SCOPUS:2442584557

VL - 24

SP - 305

EP - 317

JO - Clinics in Laboratory Medicine

JF - Clinics in Laboratory Medicine

SN - 0272-2712

IS - 1

ER -