A decade with agammaglobulinemia

This progress report is presented a decade after recognition of a patient with agammaglobulinemia. It includes a brief description and follow-up of the first recognized patient, a brief summary of significant advances in the elucidation of agammaglobulinemia as a disease entity, and some predictions on the type of advances which may be made in this field. Although the first child reported has never been able to synthesize gamma globulin, adequate treatment with gamma globulin has permitted the normal growth and development without complications reported in other cases. Acquired and secondary forms of thedisease can be recognized and can be distinguished from the congenital form. It is postulated that the acquired form of the disease itself may be the result of a misdirected immunologic reaction. The paradox of a rheumatoid syndrome occurring in the agammaglobulinemic patient could be the result of synthesis of an abnormal protein by dysfunctioning cells. The probable multietiological factors producing this disease suggest that the diagnosis at some future date will be complete only if designated by its basic defect. The disease has been of great importance in the impetus it has given to the study of immunologic mechanisms in man, the furtherance of accomplishing organ transplants, and the attempt to find the key to the control of many diseases caused by misdirected protein metabolism.