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Article

Paucity of genotype-phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES).

Clinical immunology (Orlando, Fla.) - 1 Apr 2011

Heimall Jennifer, Davis Joie, Shaw Pamela A, Hsu Amy P, Gu Wenjuan, Welch Pam, Holland Steven M, Freeman Alexandra F

Abstract excerpt

Autosomal dominant HIES (AD-HIES) is a primary immunodeficiency caused by dominant negative mutations in STAT3 clustered in the DNA binding and SH2 domains. Although in vitro differences in mutational constructs are observed, clinical phenotypic correlates of these genetic changes have not been described. We reviewed the charts of 65 AD-HIES patients (DNA binding n=35; SH2 n=30), recorded the components of the...

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Identifiers

PMID: 21288777
DOI: 10.1016/j.clim.2011.01.001
PMCID: PMC3065511

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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