ANALYSIS OF A FAMILY CONTAINING 3 MEMBERS WITH COMMON VARIABLE IMMUNODEFICIENCY

Background: Common variable immunodeficiency (CVID), a diverse immunod eficiency syndrome characterized by low immune globulin levels and rec urrent infections, has been observed in families with the HLA A1 B8 DR 3 haplotype. Methods: We report a two-generation family with three mem bers affected by CVID. Immunoglobulin levels, antibody titers, lymphoc yte marker analyses, T cell proliferation assays, and HLA typing were performed on the affected family members. Results: Studies of the affe cted patients revealed low levels of immunoglobulin G and A; normal te tanus, rubella and rubeola antibody titers; low B cell numbers; normal T cell numbers; normal CD4/CDs ratios and normal lymphocyte prolifera tion studies. HLA typing did not reveal the HLA A1 B8 DR3 haplotype pr eviously associated with familial CVID. Conclusion: We report a family with a unique presentation of CVID involving possible genetic inherit ance other than the HLA A1 B8 DR3 haplotype and possessing lymphocyte characteristics distinct from those usually seen in sporadic CVID.