Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly.
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.
Department of Pediatric Hematology and Oncology, University Hospital Motol and 2nd Medical School, Charles University, Prague, Czech Republic. ales.janda@lfmotol.cuni.cz
Ales
A
Janda
Petr
P
Sedlacek
Manfred
M
Hönig
Wilhelm
W
Friedrich
Martin
M
Champagne
Tadashi
T
Matsumoto
Alain
A
Fischer
Benedicte
B
Neven
Audrey
A
Contet
Danielle
D
Bensoussan
Pierre
P
Bordigoni
David
D
Loeb
William
W
Savage
Nada
N
Jabado
Francisco A
FA
Bonilla
Mary A
MA
Slatter
E Graham
EG
Davies
Andrew R
AR
Gennery
D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D036101:Cord Blood Stem Cell Transplantation; D004062:DiGeorge Syndrome / Q000097:blood / Q000276:immunology / Q000628:therapy*; D005260:Female; D006086:Graft vs Host Disease / Q000209:etiology; D006680:HLA Antigens; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects / Q000379:methods; D006801:Humans; D007223:Infant; D018655:Lymphocyte Count; D038041:Lymphopoiesis; D008297:Male; D012189:Retrospective Studies; D011795:Surveys and Questionnaires; D019172:Transplantation Conditioning; D016896:Treatment Outcome
D006680:HLA Antigens