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rdf:type
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Description
| - The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues. Recently, HIES has been associated with heterozygous dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) and severe reductions of T(H)17 cells. OBJECTIVE: To determine whether there is a correlation between the genotype and the phenotype of patients with HIES and to establish diagnostic criteria to distinguish between STAT3 mutated and STAT3 wild-type patients
- The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues. Recently, HIES has been associated with heterozygous dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) and severe reductions of T(H)17 cells. OBJECTIVE: To determine whether there is a correlation between the genotype and the phenotype of patients with HIES and to establish diagnostic criteria to distinguish between STAT3 mutated and STAT3 wild-type patients (en)
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Title
| - Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
- Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome (en)
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skos:prefLabel
| - Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
- Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome (en)
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skos:notation
| - RIV/00159816:_____/10:#0000546!RIV11-MZ0-00159816
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00159816:_____/10:#0000546
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - hyper-IgE syndrome, STAT3, diagnostic giudelines (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - Journal of Allergy Clinical Immunology
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Litzman, Jiří
- Gennery, A.
- Baumann, Ulrich
- Ehl, Stephan
- Abinum, Mario
- Breborowicz, Anna
- Cossu, Fausto
- Espaňol, Teresa
- Franco, José L.
- Gertz, E. Michael
- Glocker, Erik-Oliver
- Heropolitanska-Pliszka, Edyta
- Lagos, M.
- Matamoros, Nuria
- Moin, Mostafa
- Perro, M.
- Pietrogrande, Maria C.
- Pietrucha, B.
- Sanal, Ozden
- Schaffer, A. A.
- Woellner, C.
- Yeganeh, Mehdi
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http://linked.open...ain/vavai/riv/wos
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issn
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number of pages
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