NBAS Gene Variants: Clinical Case Report and Literature Review

A clinical case report describes a novel compound heterozygous variant in the NBAS gene in a Chinese patient presenting with hemophagocytic lymphohistiocytosis and multisystem involvement. The report includes functional validation of the variant and a systematic review of 322 previously reported patients to analyze genotype-phenotype correlations. The document was authored by Xiaozhen Gong and last updated on June 1, 2026.

Use Cases

• Analyze genotype-phenotype correlations based on the review of 322 reported NBAS cases.
• Study the clinical spectrum of NBAS-related disease based on the detailed case presentation.
• Investigate the functional impact of specific NBAS variants based on the described PCR and Western blotting results.

Strengths

• Includes a systematic review of 322 previously reported patients.
• Provides detailed functional validation of a novel NBAS variant.
• Document is licensed under CC-BY-4.0 for open sharing.

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 24.9 KB DOCX file, indicating a very limited scope.

Provenance

Source

figshare

Collection Method

Clinical case study and systematic literature review.

Freshness

Last updated 2026-06-01 04:20:22; freshness should be verified.

Geography

Case report involves a Chinese patient; literature review is global.