Hyper-Immunoglobulin E Syndrome, Autosomal Dominant

Known as: Hyper IgE Syndrome, Autosomal Dominant, Job's syndrome, STAT3 Deficiency 
A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is… (More)
National Institutes of Health

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Highly Cited
2014
Highly Cited
2014
The protein cytotoxic T lymphocyte antigen-4 (CTLA-4) is an essential negative regulator of immune responses, and its loss causes… (More)
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Highly Cited
2010
Highly Cited
2010
We identified 18 patients with the distinct clinical phenotype of susceptibility to disseminated nontuberculous mycobacterial… (More)
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Review
2008
Review
2008
The hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, rash, and recurrent… (More)
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Highly Cited
2001
Highly Cited
2001
Hemochromatosis is a progressive iron overload disorder that is prevalent among individuals of European descent. It is usually… (More)
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Highly Cited
2000
Highly Cited
2000
Autosomal dominant optic atrophy (ADOA) is the most prevalent hereditary optic neuropathy resulting in progressive loss of visual… (More)
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Highly Cited
2000
Highly Cited
2000
Proper serum phosphate concentrations are maintained by a complex and poorly understood process. Identification of genes… (More)
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Highly Cited
1999
Highly Cited
1999
The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly… (More)
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Highly Cited
1996
Highly Cited
1996
Autosomal dominant polycystic kidney disease (ADPKD) is a common disease and an important cause of renal failure. It is… (More)
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Highly Cited
1995
Highly Cited
1995
Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3… (More)
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Highly Cited
1994
Highly Cited
1994
ACHONDROPLASIA, the most common cause of chondrodysplasia in man (1 in 15,000 live births), is a condition of unknown origin… (More)
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