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Article

STAT3-Deficient hyperimmunoglobulin E syndrome: report of a case with orofacial granulomatosis-like disease.

Oral surgery, oral medicine, oral pathology and oral radiology - 1 Nov 2018

Carey Barbara, Mercadante Valeria, Fedele Stefano, Glover Mary, Cale Catherine, Porter Stephen

Abstract excerpt

Hyperimmunoglobulin E syndrome (HIES) is a rare heterogeneous primary immunodeficiency disorder characterized by infections of the lung and skin, elevated serum immunoglobulin E, and involvement of soft and bony tissues. Autosomal dominant HIES and related disorders are caused by defects in the Janus activated kinase-signal transducer and activator of transcription signaling pathway, leading to reduced numbers of...

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Identifiers

PMID: 30126807
DOI: 10.1016/j.oooo.2018.07.006

Genes

STAT3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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