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Polyglandular Type I Autoimmune Syndrome

Known as: Autoimmune Polyendocrinopathy Syndrome Type 1, ENDOCRINOPATHY, FAMILIAL, JUVENILE, Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy 
National Institutes of Health

Related topics

Related topics

21 relations
Addison DiseaseAlopeciaAnemia, PerniciousAutoimmune polyendocrinopathy syndrome, type 1

Broader (1)

Polyendocrinopathies, Autoimmune

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
Oral and oesophageal squamous cell carcinoma--a complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I).
Highly Cited
2002
Highly Cited
2002
Over‐the‐Counter Antifungal Drug Misuse Associated With Patient‐Diagnosed Vulvovaginal Candidiasis
Highly Cited
2002
Highly Cited
2002
AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, OMIM 240300) is a rare autoimmune disease caused by… 
Review
2002
Review
2002
APS-I/APECED: the clinical disease and therapy.
  • J. Perheentupa
  • Endocrinology and metabolism clinics of North…
  • 2002
  • Corpus ID: 4726121
Highly Cited
1999
Highly Cited
1999
Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.
The AIRE gene (autoimmune regulator), coding for a putative transcriptional regulatory factor, is mutated in autoimmune… 
Highly Cited
1998
Highly Cited
1998
The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor.
Highly Cited
1998
Highly Cited
1998
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; OMIM *240300, also called APS 1,) is a rare autosomal… 
Highly Cited
1997
Highly Cited
1997
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the only described systemic autoimmune disease with… 
Highly Cited
1997
Highly Cited
1997
Positional cloning of the APECED gene
Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-recessive disorder that maps to human… 
Highly Cited
1985
Highly Cited
1985
Autoimmune polyendocrinopathy – candidosis – ectodermal dystrophy (APECED): autosomal recessive inheritance
A genetic analysis was made of 58 patients and their 42 families with APECED (autoimmune polyendocrinopathy – candidosis… 
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