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

Papers overview

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2008
2008
Mutations in the Aire gene result in a clinical phenomenon known as Autoimmune Polyglandular Syndrome (APS) Type I, which… (More)
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Highly Cited
2007
Highly Cited
2007
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), a monogenic recessive disease characterized by… (More)
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Review
2002
Review
2002
The clinical picture and course of APS-I or APD-I/APECED is widely variable: the list of possible disease components includes… (More)
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Highly Cited
2000
Highly Cited
2000
Mutations in the putative transcription factor autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrinopathy… (More)
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Highly Cited
2000
Highly Cited
2000
T cell development is tightly controlled by thymic stromal cells. Alterations in stromal architecture affect T cell maturation… (More)
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Highly Cited
1999
Highly Cited
1999
The AIRE gene (autoimmune regulator), coding for a putative transcriptional regulatory factor, is mutated in autoimmune… (More)
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Highly Cited
1997
Highly Cited
1997
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the only described systemic autoimmune disease with… (More)
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Highly Cited
1997
Highly Cited
1997
Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-recessive disorder that maps to human… (More)
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Highly Cited
1994
Highly Cited
1994
Autoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease characterized by a variable… (More)
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Highly Cited
1990
Highly Cited
1990
To define the clinical picture and course of the autosomal recessive disease called autoimmune polyendocrinopathy-candidiasis… (More)
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