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Article

Functional characterization of two new STAT3 mutations associated with hyper-IgE syndrome in a Mexican cohort.

Clinical genetics - 1 Feb 2016

Alcántara-Montiel J C, Staines-Boone T, López-Herrera G, Espinosa-Rosales F, Espinosa-Padilla S E, Hernández-Rivas R, Santos-Argumedo L

Abstract excerpt

Hyper-IgE syndrome (HIES) is an immunodeficiency disorder that is characterized by distinctive immunologic and non-immunologic manifestations. Although mutations in signal transducer and activator of transcription 3 (STAT3) have been associated with HIES, the exact nature of the relationship is unknown. Here, we characterized the functional activity of STAT3 and its mutations in 11 Mexican patients with autosomal...

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Source

Identifiers

PMID: 26293184
DOI: 10.1111/cge.12658

Genes

STAT3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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