Thymus transplantation in complete DiGeorge anomaly.
Complete DiGeorge anomaly is characterized by athymia, congenital heart disease, and hypoparathyroidism. This congenital disease is fatal by age 2 years unless immune reconstitution is successful. There are multiple underlying syndromes associated with complete DiGeorge anomaly including 22q11 hemizygosity in approximately 50%, CHARGE association in approximately 25%, and diabetic embryopathy in approximately 15%. Approximately one-third of patients present with rash and lymphadenopathy associated with oligoclonal "host" T cells. This condition resembles Omenn syndrome. Immunosuppression is necessary to control the oligoclonal T cells. The results of thymus transplantation are reported for a series of 50 patients, of whom 36 survive. The survivors develop naïve T cells and a diverse T cell repertoire.
Markert
M Louise
ML
Departments of Pediatrics and Immunology, Duke University Medical Center, Box 3068, Durham, NC, 27710, USA. marke001@mc.duke.edu
Devlin
Blythe H
BH
Chinn
Ivan K
IK
McCarthy
Elizabeth A
EA
D000328:Adult; D002675:Child, Preschool; D004062:DiGeorge Syndrome / Q000276:immunology* / Q000401:mortality / Q000601:surgery*; D006801:Humans; D007223:Infant; D053208:Kaplan-Meier Estimate; D008099:Liver / Q000276:immunology* / Q000473:pathology; D016176:T-Lymphocyte Subsets / Q000276:immunology*; D013950:Thymus Gland / Q000637:transplantation*; D016896:Treatment Outcome