Agammaglobulinaemia and co-existent pernicious anaemia.

Immunological studies were performed on a woman with agammaglobulinaemia and coexistent pernicious anaemia, on her two daughters who had recurrent sinusitis, and on her husband. Serum levels of IgG, IgA and IgM were markedly reduced in the patient, whereas both daughters had a marked selective deficiency of IgA. Autoantibodies to intrinsic factor and to the gastric parietal cell were absent in these subjects, but the serum of one daughter contained thyroid autoantibodies. Assessment of the in vitro response of lymphocytes to four phytomitogens (phytohaemagglutinin, pokeweed, wax-bean and Concanavalin A) showed an altered response to Concanavalin A and an essentially normal response profile to the other mitogens. These responses differed significantly from those of eight agammaglobulinaemic patients without coexistent autoimmune disease, suggesting that subtle immune differences may exist between these two groups of patients. The findings suggest that at least three immunological aberrations in this family were under genetic control; these included abnormalities in serum immunoglobulin levels, altered in vitro lymphocyte response to Concanavalin A and an autoimmune concomitant of pernicious anaemia.