Congenital Hypogammaglobulinemia

Abstract

THE two classic forms of primary hypogammaglobulinemia are congenital sex-linked agammaglobulinemia and acquired hypogammaglobulinemia. This report concerns a third group—congenital hypogammaglobulinemia— characterized by onset of recurrent infections early in childhood but occurring in both males and females. A 28-year-old woman, representative of this group, is reported. She had, in addition, brachydactylia, congenital depigmentation, and acquired aplastic anemia. Extensive studies of her proteins were undertaken. Of considerable interest was the occurrence of type I and type II γ-globulins in a normal ratio. The etiology of hypogammaglobulinemia and the significance of this observation are discussed. Report of Case A 28-year-old Caucasian housewife was first seen at Madigan General Hospital on Jan 8, 1963, for anemia and cystitis. Beginning at the age of a few months, she developed frequent colds, at 6 months had whooping cough, and at 1 year a severe episode of measles. Urinary tract infections began in early childhood and