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Article

Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.

International journal of molecular sciences - 26 Jan 2023

Jacob Minnie, Masood Afshan, Abdel Rahman Anas M

Abstract excerpt

Hyper-IgE Syndrome (HIES) is a heterogeneous group of primary immune-deficiency disorders characterized by elevated levels of IgE, eczema, and recurrent skin and lung infections. HIES that is autosomally dominant in the signal transducer and activator of transcription 3 (STAT3), and autosomal recessive mutations in phosphoglucomutase 3 (PGM3) have been reported in humans. An early diagnosis, based on clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36768728
DOI: 10.3390/ijms24032406
PMCID: PMC9916661

Provenance

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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