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Analysis of a family containing three members with common variable immunodeficiency
M L de Asis1, S Iqbal, M Sicklick
1Division of Allergy and Immunology, Albert Einstein College of Medicine, Bronx, New York, USA.
Background:
Common variable immunodeficiency (CVID), a diverse immunodeficiency syndrome characterized by low immune globulin levels and recurrent infections, has been observed in families with the HLA A1 B8 DR3 haplotype.
Methods:
We report a two-generation family with three members affected by CVID. Immunoglobulin levels, antibody titers, lymphocyte marker analyses, T cell proliferation assays, and HLA typing were performed on the affected family members.
Results:
Studies of the affected patients revealed low levels of immunoglobulin G and A; normal tetanus, rubella and rubeola antibody titers; low B cell numbers; normal T cell numbers; normal CD4/CD8 ratios and normal lymphocyte proliferation studies. HLA typing did not reveal the HLA A1 B8 DR3 haplotype previously associated with familial CVID.
Conclusion:
We report a family with a unique presentation of CVID involving possible genetic inheritance other than the HLA A1 B8 DR3 haplotype and possessing lymphocyte characteristics distinct from those usually seen in sporadic CVID.