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Article

A novel STAT3 mutation associated with hyper immunoglobulin E syndrome with a paucity of connective tissue signs.

Pediatrics international : official journal of the Japan Pediatric Society - 1 May 2021

Yoshida Yoichiro, Nagamori Tsunehisa, Takahashi Hironori, Ishibazawa Emi, Shimada Sorachi, Kawai Toshinao, Azuma Hiroshi

Abstract excerpt

BACKGROUND: A heterozygous mutation of STAT3 causes autosomal dominant hyper immunoglobulin E (IgE) syndrome; however, there are still many unclear points regarding the clinical spectrum of this syndrome. METHODS: In addition to a clinical description of patients in terms of pedigree, a genetic analysis, quantitation of peripheral blood Th17 and ex vivo IL-17 production were carried out. RESULTS: The proband, a...

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Source

Identifiers

PMID: 32920916
DOI: 10.1111/ped.14463

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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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