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rdf:type |
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lifeskim:mentions |
umls-concept:C0007584,
umls-concept:C0022398,
umls-concept:C0026882,
umls-concept:C0031715,
umls-concept:C0040649,
umls-concept:C0040661,
umls-concept:C0205314,
umls-concept:C0392756,
umls-concept:C0679622,
umls-concept:C1367307,
umls-concept:C1705162,
umls-concept:C1710082
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pubmed:issue |
1
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pubmed:dateCreated |
2008-7-8
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pubmed:abstractText |
Hyper-IgE syndrome (HIES) is a rare, autosomal-dominant immunodeficiency characterized by eczema, Staphylococcus aureus skin abscesses, pneumonia with pneumatocele formation, Candida infections, and skeletal/connective tissue abnormalities. Recently it was shown that heterozygous signal transducer and activator of transcription 3 (STAT3) mutations cause autosomal-dominant HIES.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1097-6825
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pubmed:author |
pubmed-author:Anover-SombkeStephanieS,
pubmed-author:BarbozaJuliaJ,
pubmed-author:BelohradskyBernd HBH,
pubmed-author:CareyJohn CJC,
pubmed-author:GetzMelissa MMM,
pubmed-author:HillHarry RHR,
pubmed-author:JanssonAnnette FAF,
pubmed-author:LeppertMark FMF,
pubmed-author:OchsHans DHD,
pubmed-author:RackAnita LAL,
pubmed-author:ReichenbachJanineJ,
pubmed-author:RennerEllen DED,
pubmed-author:RylaarsdamStaceyS,
pubmed-author:SchimkeLena FLF,
pubmed-author:SegerReinhard ARA,
pubmed-author:TorgersonTroy RTR,
pubmed-author:ZhuQiliQ
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pubmed:issnType |
Electronic
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pubmed:volume |
122
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
181-7
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pubmed:meshHeading |
pubmed-meshheading:18602572-Adolescent,
pubmed-meshheading:18602572-Adult,
pubmed-meshheading:18602572-Child,
pubmed-meshheading:18602572-Child, Preschool,
pubmed-meshheading:18602572-Female,
pubmed-meshheading:18602572-Humans,
pubmed-meshheading:18602572-Interleukin-17,
pubmed-meshheading:18602572-Job's Syndrome,
pubmed-meshheading:18602572-Male,
pubmed-meshheading:18602572-Middle Aged,
pubmed-meshheading:18602572-Mutation,
pubmed-meshheading:18602572-Phosphorylation,
pubmed-meshheading:18602572-STAT3 Transcription Factor,
pubmed-meshheading:18602572-Signal Transduction,
pubmed-meshheading:18602572-T-Lymphocytes, Helper-Inducer
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pubmed:year |
2008
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pubmed:articleTitle |
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.
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pubmed:affiliation |
Department of Pediatrics, University of Washington School of Medicine and Children's Hospital and Regional Medical Center, Seattle, Wash 98101-1304, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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