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Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants.

Publication ,  Journal Article
Markert, ML; Devlin, BH; Alexieff, MJ; Li, J; McCarthy, EA; Gupton, SE; Chinn, IK; Hale, LP; Kepler, TB; He, M; Sarzotti, M; Skinner, MA ...
Published in: Blood
May 15, 2007

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 transplantations 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 subjects who received a transplant 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 1 year after transplantation had developed polyclonal T-cell repertoires and proliferative responses to mitogens. Adverse events developing after transplantation included hypothyroidism in 5 subjects and enteritis in 1 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.

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Published In

Blood

DOI

ISSN

0006-4971

Publication Date

May 15, 2007

Volume

109

Issue

10

Start / End Page

4539 / 4547

Location

United States

Related Subject Headings

  • Transplantation, Homologous
  • Thymus Gland
  • T-Lymphocytes
  • Survival Analysis
  • Retrospective Studies
  • Male
  • Leukocyte Count
  • Infections
  • Infant, Newborn
  • Immunology
 

Citation

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Chicago
ICMJE
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Markert, M. L., Devlin, B. H., Alexieff, M. J., Li, J., McCarthy, E. A., Gupton, S. E., … Hoehner, J. C. (2007). Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood, 109(10), 4539–4547. https://doi.org/10.1182/blood-2006-10-048652
Markert, M Louise, Blythe H. Devlin, Marilyn J. Alexieff, Jie Li, Elizabeth A. McCarthy, Stephanie E. Gupton, Ivan K. Chinn, et al. “Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants.Blood 109, no. 10 (May 15, 2007): 4539–47. https://doi.org/10.1182/blood-2006-10-048652.
Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood. 2007 May 15;109(10):4539–47.
Markert, M. Louise, et al. “Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants.Blood, vol. 109, no. 10, May 2007, pp. 4539–47. Pubmed, doi:10.1182/blood-2006-10-048652.
Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, Chinn IK, Hale LP, Kepler TB, He M, Sarzotti M, Skinner MA, Rice HE, Hoehner JC. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood. 2007 May 15;109(10):4539–4547.

Published In

Blood

DOI

ISSN

0006-4971

Publication Date

May 15, 2007

Volume

109

Issue

10

Start / End Page

4539 / 4547

Location

United States

Related Subject Headings

  • Transplantation, Homologous
  • Thymus Gland
  • T-Lymphocytes
  • Survival Analysis
  • Retrospective Studies
  • Male
  • Leukocyte Count
  • Infections
  • Infant, Newborn
  • Immunology