Thymic transplantation for complete DiGeorge syndrome: medical and surgical considerations.

BACKGROUND/PURPOSE: Complete DiGeorge syndrome results in the absence of functional T cells. Our program supports the transplantation of allogeneic thymic tissue in infants with DiGeorge syndrome to reconstitute immune function. This study reviews the multidisciplinary care of these complex infants. METHODS: From 1991 to 2001, the authors evaluated 16 infants with complete DiGeorge syndrome. All infants received multidisciplinary medical and surgical support. Clinical records for the group were reviewed. RESULTS: Four infants died without receiving a thymic transplantation, and 12 children survived to transplantation. The mean age at time of transplantation was 2.7 months (range, 1.1 to 4.4 months). All 16 infants had significant comorbidity including congenital heart disease (16 of 16), hypocalcemia (14 of 16), gastroesophageal reflux disease or aspiration (13 of 16), CHARGE complex (4 of 16), and other organ involvement (14 of 16). Nontransplant surgical procedures included central line placement (15 of 16), fundoplication or gastrostomy (10 of 16), cardiac repair (10 of 16), bronchoscopy or tracheostomy (6 of 16), and other procedures (12 of 16). Complications were substantial, and 5 of the 12 transplanted infants died of nontransplant-related conditions. All surviving infants have immune reconstitution, with follow-up from 2 to 10 years. CONCLUSIONS: Although the transplantation of thymic tissue can restore immune function in infants with complete DiGeorge syndrome, these children have substantial comorbidity. Care of these children requires coordinated multidisciplinary support.

Duke Scholars

Author Henry Elliot Rice Surgery, Pediatric General Surgery

Author Laura Pope Hale Pathology

Author Mary Louise Markert Pediatrics, Allergy and Immunology