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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 analysis shows 7.7% of children with immune cytopenias have genetic disorders, suggesting new targeted therapies may be needed.

Key Points

  • To determine the prevalence of pathogenic variants in children with immune cytopenias through genetic testing.
  • Retrospective study of children with immune cytopenias undergoing clinical genetic testing.
  • Utilized targeted next generation sequencing panels for genetic evaluation.
  • Included diagnoses of Immune Thrombocytopenia, Autoimmune Hemolytic Anemia, and Evans syndrome.
  • Identified pathogenic and likely pathogenic variants in 30.1% of patients with immune cytopenias.
  • Reported molecular inborn errors of immunity diagnoses in 7.7% of the cohort.
  • Common genetic conditions included variants related to Autoimmune Lymphoproliferative Disorders and Common Variable Immunodeficiency.

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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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Enrichment of Variants of Known and Unknown Significance in Specific Inborn Error of Immunity Categories in Children with Autoimmune Cytopenia2026
  2. 2Genetic analysis of children with suspected immunodeficiency: mimickers of inborn errors of immunity2026
  3. 3Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center2026
  4. 4Immunogenetic Screening Reveals Hidden Inborn Errors of Immunity in Pediatric Lymphoproliferative Disorders2026
  5. 5A descriptive analysis of autoimmune cytopenias in children with inborn errors of immunity2025