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  • 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)
Title
  • Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
  • Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome (en)
skos:prefLabel
  • Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
  • Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome (en)
skos:notation
  • RIV/00159816:_____/10:#0000546!RIV11-MZ0-00159816
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • R, S
http://linked.open...iv/cisloPeriodika
  • 2
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 273266
http://linked.open...ai/riv/idVysledku
  • RIV/00159816:_____/10:#0000546
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • hyper-IgE syndrome, STAT3, diagnostic giudelines (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [10A698FBB174]
http://linked.open...i/riv/nazevZdroje
  • Journal of Allergy Clinical Immunology
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 125
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
http://linked.open...ain/vavai/riv/wos
  • 000274764000022
issn
  • 0091-6749
number of pages
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