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Statements

Subject Item
n2:RIV%2F00159816%3A_____%2F10%3A%230000546%21RIV11-MZ0-00159816
rdf:type
skos:Concept n15:Vysledek
dcterms: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
dcterms:title
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
skos:prefLabel
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
skos:notation
RIV/00159816:_____/10:#0000546!RIV11-MZ0-00159816
n3:aktivita
n8:R n8:S
n3:aktivity
R, S
n3:cisloPeriodika
2
n3:dodaniDat
n13:2011
n3:domaciTvurceVysledku
n16:9731490
n3:druhVysledku
n10:J
n3:duvernostUdaju
n12:S
n3:entitaPredkladatele
n5:predkladatel
n3:idSjednocenehoVysledku
273266
n3:idVysledku
RIV/00159816:_____/10:#0000546
n3:jazykVysledku
n14:eng
n3:klicovaSlova
hyper-IgE syndrome, STAT3, diagnostic giudelines
n3:klicoveSlovo
n9:diagnostic%20giudelines n9:STAT3 n9:hyper-IgE%20syndrome
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[10A698FBB174]
n3:nazevZdroje
Journal of Allergy Clinical Immunology
n3:obor
n7:FN
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
22
n3:rokUplatneniVysledku
n13:2010
n3:svazekPeriodika
125
n3:tvurceVysledku
Ehl, Stephan Schaffer, A. A. Matamoros, Nuria Yeganeh, Mehdi Gennery, A. Breborowicz, Anna Heropolitanska-Pliszka, Edyta Gertz, E. Michael Espaňol, Teresa Abinum, Mario Pietrucha, B. Cossu, Fausto Moin, Mostafa Franco, José L. Litzman, Jiří Woellner, C. Sanal, Ozden Perro, M. Lagos, M. Pietrogrande, Maria C. Glocker, Erik-Oliver Baumann, Ulrich
n3:wos
000274764000022
s:issn
0091-6749
s:numberOfPages
9