Clinical Immunology in Chromatinopathies Scoping Review

A 2024 scoping review synthesizes clinical data from 101 articles covering 715 individuals with 21 different chromatinopathy syndromes. It compiles information on immune system anomalies, laboratory values, and medical history to address knowledge gaps in immune dysregulation for these neurodevelopmental disorders.

Use Cases

• Extract and analyze reported frequencies of infections, such as respiratory tract infections, across the 21 different syndromes.
• Identify patterns of common immunopathology like immunodeficiency and immune thrombocytopenic purpura from the synthesized clinical data.
• Examine available immunologic laboratory results, such as hypo/a-gammaglobulinemia prevalence, for the 183 individuals with ten different syndromes.
• Compare the characterization of immune manifestations between the most affected syndromes, ICF syndrome type 1 and Kabuki syndrome type 1.

Strengths

• Synthesizes data from 101 peer-reviewed articles.
• Covers a cohort of 715 individuals with 21 distinct chromatinopathy syndromes.
• Includes immunologic laboratory results for a subset of 183 individuals.

Limitations

• Data is a qualitative synthesis from a scoping review, not a primary structured dataset.
• Systematic laboratory test data is noted as uncommon for the majority of cases, limiting quantitative analysis.
• The primary data source is a single DOCX file, not a machine-readable tabular format.

Provenance

Source

Scoping review conducted by author Dieke Jans, published on figshare.

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 articles added via cross-referencing after that date.

Geography

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