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Related Experiment Video

Updated: Jun 17, 2026

Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry
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Polyautoimmunity Reflecting Immune Dysregulation in Common Variable Immunodeficiency.

Maria Giovanna Danieli1,2,3, Giuseppe Murdaca4,5, Cristina Mezzanotte6

  • 1SOS Immunologia delle Malattie Rare e dei Trapianti, SOD Clinica Medica, Dipartimento di Medicina Interna, Azienda Ospedaliero Universitaria delle Marche, 60126 Ancona, Italy.

Biomedicines
|March 28, 2025
PubMed
Summary

Polyautoimmunity is common in adults with Common Variable Immunodeficiency (CVID), often presenting with cytopenias. Early immunoglobulin replacement therapy may prevent these autoimmune issues.

Keywords:
antinuclear antibodiesautoantibodiesautoimmune diseaseautoimmunitycommon variable immunodeficiencyimmune dysregulationimmune imbalanceinborn errors of immunityintravenous immunoglobulinpolyautoimmunitysubcutaneous immunoglobulin

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Area of Science:

  • Immunology
  • Clinical Medicine
  • Genetics

Background:

  • Common Variable Immunodeficiency (CVID) is a primary immunodeficiency affecting adults, characterized by recurrent infections.
  • CVID patients frequently experience non-infectious complications, including autoimmune diseases, lymphoproliferation, and malignancy.
  • Autoimmune manifestations in CVID range from single (monoautoimmunity) to multiple (polyautoimmunity) conditions, or latent polyautoimmunity with autoantibodies but no clinical disease.

Purpose of the Study:

  • To investigate the prevalence and characteristics of autoimmunity and polyautoimmunity in adult CVID patients.
  • To analyze the clinical manifestations and diagnostic/therapeutic delays associated with autoimmune complications in CVID.

Main Methods:

  • Retrospective study of 81 adult CVID patients from January 2008 to July 2022.
  • Analysis of autoimmune disorders, autoantibodies, and clinical outcomes, including cytopenias and enteropathy.
  • Comparison of patient groups with monoautoimmunity versus polyautoimmunity regarding age at diagnosis and treatment delays.

Main Results:

  • Nearly half of CVID patients (49.4%) had at least one autoimmune disorder.
  • Polyautoimmunity was observed in 18.5% of all CVID patients, with cytopenias being the most common manifestation in both mono- and polyautoimmunity.
  • Enteropathy was significantly more frequent in polyautoimmunity (27%, p=0.006), which was also associated with an earlier age at diagnosis (p=0.018) and increased diagnostic/therapeutic delays.

Conclusions:

  • Polyautoimmunity is a frequent and significant complication in adult CVID patients.
  • Early initiation of immunoglobulin replacement therapy is suggested as a potential strategy to mitigate autoimmune complications in CVID.
  • The findings highlight the importance of monitoring for and managing autoimmune disorders in the CVID population.