Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

Woellner, Cristina; Gertz, E.; Schaeffer, Alejandro; Lagos, Macarena; Perro, Mario; Glocker, Erik-Oliver; Pietrogrande, Maria; Cossu, Fausto; Franco, Josee; Matamoros, Nuria; Pietrucha, Barbara; Heropolitanska-Pliszka, Edyta; Yeganeh, Mehdi; Moin, Mostafa; Espanol, Teresa; Ehl, Stephan; Gennery, Andrew; Abinun, Mario; Breborowicz, Anna; Niehues, Tim; Kilic, Sara; Junker, Anne; Turvey, Stuart; Plebani, Alessandro; Sanchez, Berta; Garty, Ben-Zion; Pignata, Claudio; Cancrini, Caterina; Litzman, Jiri; Sanal, Oezden; Baumann, Ulrich; Bacchetta, Rosa; Hsu, Amy; Davis, Joie; Hammarstroem, Lennart; Davies, E.; Eren, Efrem; Arkwright, Peter; Moilanen, Jukka; Viemann, Dorothee; Khan, Sujoy; Laszlo Marodi, Laszlo; Cant, Andrew; Freeman, Alexandra; Puck, Jennifer; Holland, Steven; Grimbacher, Bodo

doi:10.1016/j.jaci.2009.10.059

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

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Woellner C., Gertz E. M., Schaeffer A. A., Lagos M., Perro M., Glocker E., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.125, no.2, pp.424-432, 2010 (SCI-Expanded)

Publication Type: Article / Article
Volume: 125 Issue: 2
Publication Date: 2010
Doi Number: 10.1016/j.jaci.2009.10.059
Journal Name: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.424-432
Hacettepe University Affiliated: Yes

Abstract

Background: 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 (STAT-3) and severe reductions of T(H)17 cells.