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  • Title: Analysis of a family containing three members with common variable immunodeficiency.
    Author: de Asis ML, Iqbal S, Sicklick M.
    Journal: Ann Allergy Asthma Immunol; 1996 Jun; 76(6):527-9. PubMed ID: 8673687.
    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. 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.
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