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REDUCED CELLULAR IMMUNITY WITH NORMAL IMMUNOGLBULINS AND A DEFECTIVE ANTIBODY PRODUCTION IN TWINS

The primary immunodeficiency diseases represent themselves with a broad spectrum but sometimes reaching a diagnosis is difficult because of mild symptoms and normal tests. An example of this was a set of twins in whom various iomunological tests (blastic transformation with PHA, skin tests, serum immunoglobulins, etc) were within normal limits. They had recurrent respiratory infections and gastroenteritis necessitating 9 hospitalizations over a period of 17 months. Their 11 siblings died before 9 months of age with a history of similar infections. The autopsy showed a thymic dysplasia and depletion of the lymphocytes in thymus dependent areas and the presence of plasma cells in the peripheral lymphoid organs of one twin who died of sepsis. The other twin did not reject a skin graft and showed depletion of lymphocytes in the paracortical areas of an antigen stimulated inguinal lymph node. His red cell ADA and nucleotide phosphorylase levels, EA, EAC rosettes, surface immunoglobulins were within normal range. His antibody response to KLH and diphteria-tetanus toxoids was poor. His primary and secondary antibody responses were both decreased to bacteriophage ØK, 174 although he cleared the antigen within 6 days and had a memory amplification. Fifty three per cent of the antibody was of the IgG class. Thymosin (in vitro) caused a significant increase (48% of the initial value) in E rosettes. This was not observed in the healthy controls.