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Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

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A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report.

Filip Haenen¹, Marielle Alders², Elke Dierckx³

¹Department of General Surgery, AZ Erica, Geel, Belgium.

Journal of Pediatric Genetics

|September 15, 2016

Summary

This study identifies a new mutation in the STAT3 gene causing Hyper-immunoglobulin E syndrome (HIES). The findings highlight a novel genetic cause for this rare immunologic disorder in an affected family.

Keywords:

MeSH STAT3 transcription factor allergy autosomal dominant child hyper-Ig E syndrome immunology

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Area of Science:

Immunology
Genetics
Medical Case Reports

Background:

Hyper-immunoglobulin E syndrome (HIES) is a rare primary immunodeficiency.
Mutations in the signal transducer and activator of transcription 3 (STAT3) gene are known causes of HIES.
Clinical manifestations include recurrent infections, characteristic facial features, and dermatitis.

Observation:

A case report detailing a family with suspected HIES.
Clinical features included recurrent bacterial pneumonia, lung cysts, distinctive facial morphology, and neonatal dermatitis.
A high clinical features score and positive family history supported the HIES diagnosis.

Findings:

DNA analysis revealed a novel mutation, 1067C→G (p.P356R), in the DNA binding site of the STAT3 gene.
This mutation was identified in both an affected child and his mother.
The mutation represents a new genetic variant associated with autosomal dominant HIES.

Implications:

This discovery expands the known spectrum of STAT3 mutations causing HIES.
Identifies a novel genetic etiology for autosomal dominant HIES.
Contributes to understanding the genetic basis of primary immunodeficiencies.