Clinical Immunology Data from 715 Chromatinopathy Cases

101 articles covering 715 individuals with 21 different chromatinopathy syndromes were included in this scoping review. The dataset synthesizes clinical data on immune system anomalies, laboratory values, and medical history for these neurodevelopmental disorders. Immunologic laboratory results are available for a subset of 183 individuals across ten syndromes.

Use Cases

• Analyze the frequency of reported infections, such as respiratory tract infections, across the 21 different syndromes.
• Investigate the association between specific syndromes like ICF syndrome type 1 or Kabuki syndrome type 1 and common immunopathologies like immunodeficiency.
• Examine the prevalence of laboratory-observed conditions such as hypo/a-gammaglobulinemia among the 183 individuals with available test results.
• Map the distribution of symptoms like neurodevelopmental delay or facial dysmorphisms against reported immune dysregulation.

Strengths

• Aggregates data from 101 peer-reviewed articles, providing a broad literature synthesis.
• Covers a substantial cohort of 715 individuals with 21 distinct chromatinopathy syndromes.
• Includes immunologic laboratory results for a defined subset of 183 patients across ten syndromes.

Limitations

• The dataset is small in file size (93.8 KB), indicating limited raw data or summary-level information.
• Data is derived from a literature review, not primary collection, so analysis is constrained by the reporting in the original articles.
• Systematic laboratory tests were not commonly performed for most cases, limiting the depth of quantitative immunological data.

Provenance

Source

Scoping review conducted by author Dieke Jans.

Collection Method

Systematic literature search using PubMed, Cochrane Library, and Web of Science.

Time Range

Articles included up to March 30, 2024.

Freshness

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

Geography

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