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September 5, 2025Frontiers in ImmunologyOpen Access

Opinion: the evolving understanding of polygenic common variable immunodeficiency-like disorders

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Authors

RARohan AmeratungaELEuphemia LeungHLHilary Longhurst

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Overview

The opinion reveals insights into the genetic basis of common variable immunodeficiency disorders, suggesting a need for nuanced definitions in classification.

Key Points

  • A significant factor in common variable immunodeficiency disorders is polygenic influence, leading to varying phenotypes.
  • Next generation sequencing has revealed a high frequency of genetic variants among patients with common variable immunodeficiency disorders.
  • Approximately 25% of individuals with primary immunodeficiency disorder may have autosomal dominant mutations, impacting severity.
  • Investigating epistatic interactions among genetic loci helps understand complex immune dysfunction in these disorders.

Cite This Study

Ameratunga et al. (2025) studied this question.

synapsesocial.com/papers/68bb42142b87ece8dc9582e4https://doi.org/10.3389/fimmu.2025.1618482
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Also Consider

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

  1. 1Common Variable Immunodeficiency Disorders: A perspective from New Zealand2025
  2. 2Genetic Variants and Clinical Characteristics in Common Variable Immunodeficiency2026
  3. 3Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency2024 · 1 citations
  4. 4Dissecting the molecular heterogeneity of common variable immunodeficiency using an integrative multi-omics approach2026
  5. 5Genetic Analysis of Patients With Common Variable Immunodeficiency Followed in the Pulmonology Department: A Report of Five Patients2026