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Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients

Antonios Gkantaras1, , Markus G Seidel2

  • 11st Department of Pediatrics, Pediatric Immunology and Rheumatology Referral Center, "Hippokration" General Hospital of Thessaloniki, Aristotle University of Thessaloniki, Thessaloniki, Greece.

Journal of Human Immunity
|July 24, 2026
PubMed

Insights

Diagnosing common variable immunodeficiency (CVID) in children is challenging, as genetic defects are more common. Pediatric CVID requires genetic evaluation due to increased monogenic underpinnings and distinct phenotypes.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Diagnosing common variable immunodeficiency (CVID) in children is complex.
  • Monogenic inborn errors of immunity (IEIs) increasingly present with CVID-like symptoms.

Purpose of the Study:

  • To investigate the age-dependent genetic architecture of CVID.
  • To identify phenotypes associated with monogenic causes of CVID in children.

Main Methods:

  • Analysis of 7,525 patients with a CVID diagnosis from the ESID Registry.
  • Comparison of monogenic defect prevalence between pediatric (<18 years) and adult CVID patients.
  • Examination of phenotype associations with monogenic CVID.

Main Results:

  • Monogenic defects were found in 32.7% of pediatric CVID patients versus 8.6% of adults.
  • Pediatric-onset CVID showed higher monogenic underpinnings, especially before age 4.
  • Monogenic CVID was linked to immune dysregulation and less to infections.

Conclusions:

  • "Pediatric CVID" is a provisional diagnosis.
  • Systematic genetic evaluation is crucial for children diagnosed with CVID.
  • Identifying monogenic causes in pediatric CVID can refine diagnosis and treatment.

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