Case Report: DSG1 Gene Variant Linked to Severe Atopic Dermatitis and Allergies

A clinical case report PDF details an 18-year-old male patient with severe atopic dermatitis and multiple allergies. The report describes the identification of a heterozygous pathogenic variant (c.2569C>T) in the DSG1 gene via Next Generation Sequencing. The 623.0 KB document was authored by figshare admin karger and last updated on April 10, III.

Use Cases

• Study the relationship between DSG1 gene variants and atopic dermatitis based on the described clinical case.
• Analyze immunopathological mechanisms linking epidermal barrier dysfunction and immune dysregulation based on the report's discussion.
• Investigate the role of elevated IgE levels in severe allergic presentations based on the patient's immunological screening results.

Strengths

• Document is licensed under CC-BY-4.0, allowing for open sharing and adaptation.
• Report includes specific genetic variant identification (c.2569C>T in DSG1) and clinical findings.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is a single case report (623.0 KB), representing a very limited scope.

Provenance

Source

figshare admin karger

Collection Method

Likely contains a published or submitted clinical case report.

Time Range

Case report timeframe is not specified.

Freshness

Last updated 2026-04-10 05:55:08; freshness should be verified.

Geography

Geographic coverage of the patient is not specified.