Analysis of a family containing three members with common variable immunodeficiency.
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.


CONCLUSIONS
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.
de Asis
M L
ML
Division of Allergy and Immunology, Albert Einstein College of Medicine, Bronx, New York, USA.
Iqbal
S
S
Sicklick
M
M
D000293:Adolescent; D000328:Adult; D001402:B-Lymphocytes; D017074:Common Variable Immunodeficiency / Q000235:genetics* / Q000276:immunology*; D005260:Female; D015234:HLA-A Antigens / Q000235:genetics; D015235:HLA-B Antigens / Q000235:genetics; D006801:Humans; D008213:Lymphocyte Activation; D018655:Lymphocyte Count; D008297:Male; D013601:T-Lymphocytes / Q000276:immunology
D015234:HLA-A Antigens; D015235:HLA-B Antigens