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Blood, 15 May 2007, Vol. 109, No. 10, pp. 4539-4547. Prepublished online as a Blood First Edition Paper on February 6, 2007; DOI 10.1182/blood-2006-10-048652. This Article Full Text (PDF) All Versions of this Article: blood-2006-10-048652v1 109/10/4539    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Markert, M. L. Articles by Hoehner, J. C. Search for Related Content PubMed PubMed Citation Articles by Markert, M. L. Articles by Hoehner, J. C. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted October 4, 2006 Accepted January 21, 2007 Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants M. Louise Markert*, Blythe H. Devlin, Marilyn J. Alexieff, Jie Li, Elizabeth A. McCarthy, Stephanie E. Gupton, Ivan K. Chinn, Laura P. Hale, Thomas B. Kepler, Min He, Marcella Sarzotti, Michael A. Skinner, Henry E. Rice, and Jeffrey C. Hoehner Human Vaccine Institute, Duke University Medical Center, Durham, NC Department of Pediatrics, Duke University Medical Center, Durham, NC Department of Pathology, Duke University Medical Center, Durham, NC Center for Computational Immunology, & Department of Biostatistics & Bioinformatics, Duke University Medical Center, Durham, NC Department of Immunology, Duke University Medical Center, Durham, NC Department of Surgery, Duke University Medical Center, Durham, NC * Corresponding author; email: marke001{at}mc.duke.edu. The purpose of this study was to characterize a large group of infants with complete DiGeorge anomaly and to evaluate the ability of thymus transplantation to reconstitute immune function in these infants. DiGeorge anomaly is characterized by varying defects of the heart, thymus, and parathyroid glands. Complete DiGeorge anomaly refers to the subgroup that is athymic (<1%). The characteristics of 54 subjects at presentation and results from 44 consecutive thymus transplants are reported. Remarkably, only 52% had 22q11 hemizygosity and only 57% had congenital heart disease requiring surgery. Thirty one percent developed an atypical phenotype with rash and lymphadenopathy. To date, 33 of 44 transplanted subjects survive (75%) with post transplantation follow up as long as 13 years. All deaths occurred within 12 months of transplantation. All 25 subjects who were tested one year post-transplantation had developed polyclonal T cell repertoires and proliferative responses to mitogens. Adverse events developing post-transplantation included hypothyroidism in five subjects and enteritis in one subject. In summary, diagnosis of complete DiGeorge anomaly is challenging because of the variability of presentation. Thymus transplantation was well tolerated and resulted in stable immunoreconstitution in these infants. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: W. E. Jenkinson, A. Bacon, A. J. White, G. Anderson, and E. J. Jenkinson An Epithelial Progenitor Pool Regulates Thymus Growth J. Immunol., November 1, 2008; 181(9): 6101 - 6108. [Abstract] [Full Text] [PDF] M. L. Markert, J. Li, B. H. Devlin, J. C. Hoehner, H. E. Rice, M. A. Skinner, Y.-J. Li, and L. P. Hale Use of Allograft Biopsies to Assess Thymopoiesis after Thymus Transplantation J. Immunol., May 1, 2008; 180(9): 6354 - 6364. [Abstract] [Full Text] [PDF]

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