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Related Experiment Videos

Common variable immunodeficiency in a family.

D J Van Spronsen1, M Kerbert-Dreteler, G van der Sluijs Veer

  • 1Department of Internal Medicine, Oncology/AIDS division, Medisch Spectrum Twente/Ziekenhuis Enschede, Netherlands.

The Netherlands Journal of Medicine
|February 1, 1992
PubMed
Summary

Common variable immunodeficiency (CVID) presents with low antibody levels and impaired immunity, often diagnosed in young adults. This case highlights CVID in a mother and son with severe infections and subtle immune issues in relatives.

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Area of Science:

  • Immunology
  • Genetics

Background:

  • Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by hypogammaglobulinemia and impaired adaptive immunity.
  • CVID typically manifests with recurrent bacterial infections and increased susceptibility to autoimmunity and malignancy.
  • Late onset CVID, often diagnosed in the second decade, presents diagnostic challenges.

Purpose of the Study:

  • To describe a familial case of Common variable immunodeficiency (CVID).
  • To investigate the clinical and immunological features of CVID in a mother and son.
  • To identify potential subclinical immune abnormalities in first-degree relatives.

Main Methods:

  • Clinical case reporting.
  • Immunological profiling including immunoglobulin levels and lymphocyte subset analysis.

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  • Assessment of cellular immunity and infection history.

    • Main Results:

    • A mother and son presented with CVID and a history of serious bacterial infections.
    • Variable impairment of cellular immunity was noted in affected individuals.
    • First-degree relatives exhibited minor immunological test abnormalities despite being asymptomatic.

    Conclusions:

    • Familial occurrence of CVID is possible, emphasizing the need for genetic counseling.
    • Early identification of immune defects is crucial for managing CVID patients.
    • Subtle immunological abnormalities in relatives may indicate a predisposition to CVID.