FAMILIAL IMMUNE DEFICIENCY AND LEUKODYSTROPHY: RECONSTITUTION WITH FETAL THYMUS IN A MILLIPORE CHAMBER

Abstract

A 2 ½ year old male child (D.E.) with multiple congenital anomalies, severe psychomotor retardation, generalized seizures, chronic herpetie gingivostomatitis, overwhelming pneumococcal meningitis and sepsis was found to have a partial combined immunodeficiency. His female sibling (J. E.) who followed a similar course and who died at 4 ½ years of age was found to have sudanophilic leukodystrophy. During the course of his hospitalization, D. E. developed intractable diarrhea and was noted to have a decreased lymphoproliferative response to PHA, decreased T-cell rosette formation, a persistent lymphopenia and normal erythrocyte adenine deaminase (ADA) activity. Immunoglobulin therapy and parenteral hyperalimentation failed to alter his clinical course. Following transplantation of a 16-week fetal thymus enclosed in a millipore chamber there was prompt clearing of the herpetie lesions and cessation of the diarrhea within a few days after transplantation and an appearance of lymphocyte responsiveness to PHA one month later. Nine months after transplantation the patient remains infection-free and continues to display an intact cellular immunity. This report describes a previously unrecognized presentation of combined immune deficiency and suggests a new approach to therapy.