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Thymus transplantation in complete DiGeorge anomaly

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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 naïve T cells and a diverse T cell repertoire.

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Acknowledgments

The technical assistance of Marilyn Alexieff, Jie Li, Chia-San Hsieh, Jennifer Lonon, Julie Smith, and Anita Croasmun, and the nursing assistance of Stephanie Gupton are appreciated. The collaboration of surgeons Drs Henry Rice, Jeff Hoehner, James Jaggers, and Andrew Lodge is acknowledged. We are grateful for the clinical assistance of the faculty and fellows of the Duke Division of Pediatric Allergy and Immunology. Funding was from the National Institute of Health grants R01 AI 47040, R21 AI 60967, R01 AI 54843, M03-RR30 and from the Food and Drug Administration Office of Orphan Products Development, grant FD-R-2606. MLM is a member of the Duke Comprehensive Cancer Center. The Cancer Center flow cytometry facility under Dr. Michael Cook was very helpful for this research.

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Authors and Affiliations

  1. Departments of Pediatrics and Immunology, Duke University Medical Center, Box 3068, Durham, NC, 27710, USA

    M. Louise Markert

  2. Department of Pediatrics, Duke University Medical Center, Box 3068, Durham, NC, 27710, USA

    Blythe H. Devlin, Ivan K. Chinn & Elizabeth A. McCarthy

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  1. M. Louise Markert
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  2. Blythe H. Devlin
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  3. Ivan K. Chinn
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  4. Elizabeth A. McCarthy
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Correspondence to M. Louise Markert.

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Markert, M.L., Devlin, B.H., Chinn, I.K. et al. Thymus transplantation in complete DiGeorge anomaly. Immunol Res 44, 61–70 (2009). https://doi.org/10.1007/s12026-008-8082-5

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  • DOI: https://doi.org/10.1007/s12026-008-8082-5

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