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December 8, 2025BloodOpen Access

Germline genetic testing uncovers a high frequency of inborn error of immunity diagnoses in children with single and multi-lineage immune cytopenias in a large US cohort

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Authors

EHEmily HarrisJDJennifer DiRaimoCOCandelaria O’Farrell

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Overview

Retrospective study identifies immune dysregulation variants in 7.7% of children with immune cytopenias, suggesting genetic testing aids treatment.

Key Points

  • The study aims to determine the prevalence of pathogenic variants in children with immune cytopenias via genetic testing.
  • Retrospective analysis of children with immune cytopenias undergoing genetic testing across the US.
  • Assessment of targeted next generation sequencing panels for genetic variants.
  • Inclusion based on specific ICD-10 codes and indications for testing.
  • 1 in 13 children with immune cytopenias had genetically defined inborn errors of immunity (IEI).
  • 30.1% of the cohort showed pathogenic or likely pathogenic variants.
  • Most common genetic conditions linked to TBX1, CTLA4, and STAT3 variants.

Cite This Study

Harris et al. (2025) studied this question.

synapsesocial.com/papers/69362f364fa91c937236d2f5https://doi.org/10.1182/blood-2025-630
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