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The complex genetics of common variable immunodeficiency.

Harry W Schroeder1, Harry W Schroeder, Sofia M Sheikh

  • 1Division of Developmental and Clinical Immunology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294-3300, USA. harry.schroeder@ccc.uab.edu

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research
|April 8, 2004
PubMed
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Immunoglobulin A deficiency and common variable immunodeficiency are common genetic immune disorders. Family studies reveal genetic susceptibility loci on chromosome 6, indicating an inherited risk for these conditions.

Area of Science:

  • Immunology
  • Genetics

Background:

  • Immunoglobulin (Ig)A deficiency and common variable immunodeficiency (CVID) are prevalent primary immunodeficiency disorders in North America and Europe.
  • These conditions represent a familial spectrum of immune dysfunction, ranging from partial IgA deficiency to complete absence of serum immunoglobulins.
  • The CVID phenotype, often acquired, can exhibit spontaneous recovery of IgG and IgM sufficiency.

Purpose of the Study:

  • To investigate the genetic underpinnings of immunoglobulin deficiencies.
  • To identify potential susceptibility loci associated with familial immunoglobulin A deficiency and CVID.
  • To understand the inheritance patterns and familial risk associated with these primary immunodeficiency disorders.

Main Methods:

  • Analysis of family studies to identify patterns of inheritance.

Related Experiment Videos

  • Genetic mapping to locate susceptibility loci within the major histocompatibility complex (MHC) on chromosome 6.
  • Evaluation of the relationship between specific MHC regions and the development of immunodeficiency.

    • Main Results:

    • Family studies suggest at least two susceptibility loci for CVID within the MHC on chromosome 6.
    • One locus is located near the MHC class II region.
    • Another locus is situated near the junction of the MHC class III and class I regions.

    Conclusions:

    • Inheritance of these susceptibility genes may confer an additive risk for developing immunodeficiency.
    • First-degree relatives of CVID patients are at lifelong risk and require vigilant monitoring.
    • Genetic factors within the MHC play a significant role in the etiology of these common primary immunodeficiencies.