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Transcriptomic profiling of pediatric asthma by diseases state and severity

Jihoon Kim1, Jelte Kelchtermans1,2,3, Frank Mentch1

  • 1The Center of Applied Genomics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA.

Respiratory Research
|July 21, 2026
PubMed

Insights

Researchers identified novel genes linked to pediatric asthma, revealing insights into the disease

Area of Science:

  • Genomics
  • Immunology
  • Pediatrics

Background:

  • Pediatric asthma is common but its molecular underpinnings are not fully understood.
  • Disease complexity and heterogeneity contribute to knowledge gaps.

Purpose of the Study:

  • To investigate gene expression changes associated with pediatric asthma.
  • To identify novel molecular candidates contributing to asthma pathogenesis and severity.

Main Methods:

  • Bulk RNA sequencing was performed on peripheral blood mononuclear cells (PBMCs).
  • Analysis included 183 children (114 asthma cases, 69 controls) across two cohorts.
  • Severity-stratified analyses were conducted.

Main Results:

  • Differential expression of known (RAB7B) and novel genes (RPP38-DT, NCAL1) associated with pediatric asthma.
  • Upregulation of immune genes (CCL8, ACOD1, CXCL9, SLAMF1, EPN2) and downregulation of a transcript (ENSG00000288973) correlated with increased asthma severity.
  • Impaired type I interferon signaling implicated in asthma severity via enrichment and co-expression analysis.

Conclusions:

  • Novel molecular candidate genes contribute to pediatric asthma pathobiology.
  • Findings may aid in future molecular stratification of pediatric asthma.
  • Identified genes offer potential therapeutic targets.
Abstract

Keywords:
Pediatric AsthmaRNA-SeqSeverity

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