Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

doi:10.1016/j.jaci.2009.10.059

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Article

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

The Journal of allergy and clinical immunology - 1 Feb 2010

Woellner Cristina, Gertz E Michael, Schäffer Alejandro A, Lagos Macarena, Perro Mario, Glocker Erik-Oliver, Pietrogrande Maria C, Cossu Fausto, Franco José L, Matamoros Nuria, Pietrucha Barbara, Heropolitańska-Pliszka Edyta, Yeganeh Mehdi, Moin Mostafa, Español Teresa, Ehl Stephan, Gennery Andrew R, Abinun Mario, Breborowicz Anna, Niehues Tim, Kilic Sara Sebnem, Junker Anne, Turvey Stuart E, Plebani Alessandro, Sánchez Berta, Garty Ben-Zion, Pignata Claudio, Cancrini Caterina, Litzman Jiri, Sanal Ozden, Baumann Ulrich, Bacchetta Rosa, Hsu Amy P, Davis Joie N, Hammarström Lennart, Davies E Graham, Eren Efrem, Arkwright Peter D, Moilanen Jukka S, Viemann Dorothee, Khan Sujoy, Maródi László, Cant Andrew J, Freeman Alexandra F, Puck Jennifer M, Holland Steven M, Grimbacher Bodo

Abstract excerpt

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...

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Identifiers

PMID: 20159255
DOI: 10.1016/j.jaci.2009.10.059
PMCID: PMC2878129

Genes

STAT3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20159255-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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