Clinical Immunology Data from 715 Chromatinopathy Cases

figshare hosts a scoping review dataset covering 715 individuals with 21 different chromatinopathy syndromes. The data synthesizes clinical immunology findings, including infection history and laboratory results, from 101 articles reviewed up to March 2024.

Use Cases

• Analyze the frequency of respiratory tract infections reported across the 21 different syndromes.
• Investigate the prevalence of immunopathology types like immunodeficiency and immune thrombocytopenic purpura among cases.
• Examine laboratory results for hypo/a-gammaglobulinemia across the ten syndromes where such data is available.
• Compare immunological characterization between the most affected syndromes, ICF syndrome type 1 and Kabuki syndrome type 1.

Strengths

• Aggregates data from 101 articles, providing a broad literature base.
• Covers 715 individuals across 21 distinct chromatinopathy syndromes.
• Includes immunologic laboratory results for 183 individuals from ten syndromes.

Limitations

• Small file size (9.2 KB) indicates limited, summary-level data rather than raw patient records.
• Data scope is restricted to syndromes caused by mutations in the 'writers' group of chromatin-modifying enzymes.
• Laboratory test data is not systematically available for all cases, as noted in the review's conclusion.

Provenance

Source

Scoping review conducted by author Dieke Jans.

Collection Method

Systematic literature review from PubMed, Cochrane Library, and Web of Science.

Time Range

Articles reviewed up to March 30, 2024.

Freshness

Literature search current until March 30, 2024, with dataset updated in March 2026.

Geography

null