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Multicenter Study
. 2010 Sep 30;116(13):2229-36.
doi: 10.1182/blood-2010-03-275966. Epub 2010 Jun 7.

Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly

Ales Janda  1 , Petr Sedlacek, Manfred Hönig, Wilhelm Friedrich, Martin Champagne, Tadashi Matsumoto, Alain Fischer, Benedicte Neven, Audrey Contet, Danielle Bensoussan, Pierre Bordigoni, David Loeb, William Savage, Nada Jabado, Francisco A Bonilla, Mary A Slatter, E Graham Davies, Andrew R Gennery
Affiliations
Multicenter Study

Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly

Ales Janda et al. Blood. .

Abstract

Seventeen patients transplanted with hematopoietic cells to correct severe T lymphocyte immunodeficiency resulting from complete DiGeorge anomaly were identified worldwide, and retrospective data were obtained using a questionnaire-based survey. Patients were treated at a median age of 5 months (range, 2-53 months) between 1995 and 2006. Bone marrow was used in 11 procedures in 9 cases: 6 from matched unrelated donors, 4 from human leukocyte antigen (HLA)-identical siblings, and one haploidentical parent with T-cell depletion. Unmobilized peripheral blood was used in 8 cases: 5 from HLA-identical siblings, one from a matched unrelated donor, one from an HLA-identical parent, and one unrelated matched cord blood. Conditioning was used in 5 patients and graft-versus-host disease prophylaxis in 11 patients. Significant graft-versus-host disease occurred in 9 patients, becoming chronic in 3. Median length of follow-up was 13 months, with transplantation from HLA-matched sibling showing the best results. Median survival among deceased patients (10 patients) was 7 months after transplantation (range, 2-18 months). The overall survival rate was 41%, with a median follow-up of 5.8 years (range, 4-11.5 years). Among survivors, median CD3 and CD4 counts were 806 (range, 644-1224) and 348 (range, 225-782) cells/mm(3), respectively, CD4(+)/CD45RA(+) cells remained very low, whereas mitogen responses were normalized.

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Figures

Figure 1
Figure 1
Overall survival (n = 17).
See this image and copyright information in PMC

References

    1. Markert ML, Devlin BH, Alexieff MJ, et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood. 2007;109(10):4539–4547. - PMC - PubMed
    1. Gosseye S, Golaire MC, Verellen G, Van Lierde M, Claus D. Association of bilateral renal agenesis and Di George syndrome in an infant of a diabetic mother. Helv Paediatr Acta. 1982;37(5):471–474. - PubMed
    1. Wang R, Martinez-Frias ML, Graham JM., Jr Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: a case-based and case-control approach. J Pediatr. 2002;141(5):611–617. - PubMed
    1. Oskarsdottir S, Persson C, Eriksson BO, Fasth A. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr. 2005;164(3):146–153. - PubMed
    1. Markert ML, Alexieff MJ, Li J, et al. Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. J Allergy Clin Immunol. 2004;113(4):734–741. - PubMed

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