Studies in serum proteins; agammaglobulinemia in the adult.

Abstract Agammaglobulinemia is a syndrome which may be due to congenital or acquired factors. The clinical manifestations are readily explained by failure of immunoglobulin synthesis due to a defect in the synthesizing tissues. Such patients have a history of grossly inadequate resistance to infectious disease, and fail to produce antibodies in response to natural or artificial antigenic challenge. Four cases of adult agammaglobulinemia are described. All patients were men. In three cases agammaglobulinemia was associated with a quantitative deficiency in tissue and peripheral blood lymphocytes, and relatives were apparently unaffected. One patient had no apparent lymphocyte abnormalities, and relatives of both sexes manifested hypergammaglobulinemia. The disorder is readily diagnosed by serum protein electrophoresis or chemical fractionation studies and is believed to be amenable to specific replacement therapy with human gamma globulin.