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Immunol Res (2009) 44:6170
DOI 10.1007/s12026-008-8082-5
M. Louise Markert Blythe H. Devlin Ivan K. Chinn Elizabeth A. McCarthy
Published online: 9 December 2008 Springer Science+Business Media, LLC 2008
Abstract 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 nave T cells and a diverse T cell repertoire.
Keywords Primary immunodeciency DiGeorge anomaly Thymus transplantation
Introduction
DiGeorge anomaly is a congenital malformation with multiple etiologies. The characteristic ndings include thymus hypoplasia or aplasia, congenital heart disease, and hypoparathyroidism [1, 2]. Total absence of the thymus occurs in approximately 1% of patients. These patients are said to have complete DiGeorge anomaly. Because they are athymic, patients with complete DiGeorge anomaly do not develop educated T cells, hence they are at risk of death from infection. Approximately two-thirds of patients die by 1 year of age and the remainder die by 2 years of age. The vast majority of infants with DiGeorge
M. L. Markert (&)
Departments of Pediatrics and Immunology, Duke University Medical Center, Box 3068, Durham, NC 27710, USAe-mail: [email protected]
B. H. Devlin I. K. Chinn E. A. McCarthy
Department of Pediatrics, Duke University Medical Center, Box 3068, Durham, NC 27710, USA
Thymus transplantation in complete DiGeorge anomaly
62 Immunol Res (2009) 44:6170
anomaly have partial DiGeorge anomaly. Although their T cell numbers are low, these patients do not need immune restorative therapy [3].
Often overlooked is the diversity of etiologies leading to DiGeorge anomaly. The term anomaly implies the presence of more than one etiology in contrast to the term syndrome which implies one etiology. In a series of 50 infants with complete DiGeorge anomaly, approximately half were found to be hemizygous for 22q11 [4], approximately one quarter had CHARGE association (coloboma,...