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Article

Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases.

The Journal of molecular diagnostics : JMD - 1 Mar 2010

Kumánovics Attila, Wittwer Carl T, Pryor Robert J, Augustine Nancy H, Leppert Mark F, Carey John C, Ochs Hans D, Wedgwood Ralph J, Faville Ralph J, Quie Paul G, Hill Harry R

Abstract excerpt

With the recent discovery of mutations in the STAT3 gene in the majority of patients with classic Hyper-IgE syndrome, it is now possible to make a molecular diagnosis in most of these cases. We have developed a PCR-based high-resolution DNA-melting assay to scan selected exons of the STAT3 gene for mutations responsible for Hyper-IgE syndrome, which is then followed by targeted sequencing. We scanned for...

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Identifiers

PMID: 20093388
DOI: 10.2353/jmoldx.2010.090080
PMCID: PMC2871728

Genes

STAT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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