title: Analysis of a family containing three members with common variable immunodeficiency.
abstract: 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.
authors.affiliation: Division of Allergy and Immunology, Albert Einstein College of Medicine, Bronx, New York, USA.
authors.forename: M L
authors.initials: ML
authors.lastname: de Asis
authors.forename: S
authors.initials: S
authors.lastname: Iqbal
authors.forename: M
authors.initials: M
authors.lastname: Sicklick
mesh_terms: 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
chemical_list: D015234:HLA-A Antigens; D015235:HLA-B Antigens