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

Description

Antonios Gkantaras, working with the ESID Registry Working Party and Markus G Seidel, mined a registry of seven thousand five hundred twenty-five patients labelled with common variable immunodeficiency. He asked whether that diagnosis truly exists in children. The label describes failing antibody defences without a single known cause, yet genetics keeps finding single-gene immune errors hiding under it, especially in the young.

Pediatric cases in the registry proved enriched for monogenic inborn errors of immunity compared with adult cases. That pattern challenges childhood CVID as a settled final diagnosis and argues it should trigger full genetic workup instead. The authors single out children whose disease begins before age four or who present with immune dysregulation as the highest priority for sequencing. It matters because a named gene defect can redirect treatment entirely.

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Source: https://europepmc.org/article/MED/PMC13394009