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Common variable immune deficiency: Dissection of the variable.

Charlotte Cunningham-Rundles1

  • 1Division of Clinical Immunology, Icahn School of Medicine at Mount Sinai, New York, New York.

Immunological Reviews
|December 20, 2018
PubMed
Summary
This summary is machine-generated.

Common variable immune deficiency (CVID) is a primary immunodeficiency affecting adults, characterized by low antibody levels. Genetic defects are now being identified, offering new insights into B-cell development and potential therapies.

Keywords:
B-cell developmentantibodyautoimmunitycommon variable immune deficiencyenteropathygenetic defectsgeneticsimmune dysregulationimmune globulinnoninfectious complicationsplasma cells

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Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

Background:

  • Common variable immune deficiency (CVID) historically termed "acquired" hypogammaglobulinemia, presents with severe clinical symptoms in adults.
  • Pathology reveals altered lymph node architecture and reduced plasma cells, with hallmark low IgG, IgA, and often IgM levels.
  • Initially classified as a B-cell defect, CVID is now recognized to involve a spectrum of cellular defects.

Purpose of the Study:

  • To review the evolving understanding of Common Variable Immune Deficiency (CVID).
  • To highlight the shift in clinical challenges from infections to non-infectious inflammatory and autoimmune conditions.
  • To discuss recent advancements in identifying genetic underpinnings of CVID.

Main Methods:

  • Review of historical case reports and clinical observations.
  • Analysis of immunological findings, including serum immunoglobulin levels and cellular defects.
  • Examination of genetic studies identifying gene defects associated with CVID.

Main Results:

  • Improved survival in CVID patients due to immunoglobulin concentrate availability.
  • Emergence of chronic non-infectious inflammatory and autoimmune conditions as significant clinical issues.
  • Identification of autosomal recessive and dominant gene defects causing B-cell developmental loss in CVID.

Conclusions:

  • CVID is a complex primary immunodeficiency with evolving clinical manifestations.
  • Understanding the genetic basis of CVID is crucial for developing targeted therapies.
  • Further research is needed to address the non-infectious complications of CVID.