A hitherto unrecognized entity manifested by complete absence of gamma globulin with otherwise normal serum proteins and recurrent pneumococcal sepsis is described in an 8-year-old male. The patient appeared to be normal in other respects and, after extensive study, no structural or functional change could be demonstrated in any body system. He was unable to produce antibody to the pneumococcus with the four antigenic substances used; a positive Schick test persisted despite numerous attempts to reverse it with diphtheria toxoid. No antibody could be demonstrated following administration of typhoid vaccine in the usual manner, and his serum was negative for complement-fixing antibodies of epidemic parotitis after he experienced a typical clinical picture of that disease.
Gamma globulin could be demonstrated in his serum after concentrated immune human serum globulin was administered subcutaneously, and its gradual disappearance could be followed by electrophoretic analysis over a period of approximately six weeks. Concurrently, and following administration of human gamma globulin (3.2 gm. gamma globulin) at monthly intervals, he had been free of pneumococcal sepsis for more than a year, whereas he had experienced clinical sepsis at least 19 times in the previous four years. Eight different types of pneumococci had been recovered from blood cultures during 10 different episodes of sepsis.
In the Discussion, [the author] concluded that there was a cause-and-effect relationship between the absence of gamma globulin and the repeated infections, based on the child's dramatic improvement after beginning gamma globulin therapy. [The author] proposed two possible causes–congenital or acquired. While [he] felt that the patient's good health for the first 4.5 years of life argued against a congenital cause, the persistence of the defect supported it.
Electrophoretic Analysis of Serum Proteins in Cystic Fibrosis
