title: Hematopoietic stem cell transplantation for CD3δ deficiency.
abstract: BACKGROUND
  CD3δ deficiency is a fatal form of severe combined immunodeficiency that can be cured by hematopoietic stem cell transplantation (HSCT). The presence of a thymus loaded with T-cell progenitors in patients with CD3δ deficiency may require special considerations in choosing the regimen of conditioning and the type of HSCT.
  
  
  OBJECTIVE
  To study the outcome of CD3δ deficiency by using various modalities of stem cell transplantation.
  
  
  METHODS
  We analyzed data on 13 patients with CD3δ deficiency who underwent HSCT in 7 centers. HSCT was performed by using different sources of donor stem cells as well as various conditioning regimens.
  
  
  RESULTS
  One patient received stem cells from a matched related donor and survived after a second transplant, needing substantial conditioning in order to engraft. Only 2 of 7 other patients who received a mismatched related donor transplant survived; 2 of them had no conditioning, whereas the others received various combinations of conditioning regimens. Engraftment of T cells in the survivors appears incomplete. Three other patients who received stem cells from a matched unrelated donor survived and enjoyed full immune reconstitution. Two patients received unrelated cord blood without conditioning. One of them has had a partial but stable engraftment, whereas the other engrafted well but is only 12 months after HSCT. We also report here for the first time that patients with CD3δ deficiency can present with typical features of Omenn syndrome.
  
  
  CONCLUSIONS
  HSCT is a successful treatment for patients with CD3δ deficiency. The small number of patients in this report prevents definitive statements on the importance of survival factors, but several are suggested: (1) HLA-matched donor transplants are associated with superior reconstitution and survival than are mismatched donor transplants; (2) substantial conditioning appears necessary; and (3) early diagnosis and absence of opportunistic infections may affect outcome.
authors.affiliation: Canadian Centre for Primary Immunodeficiency, Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
authors.forename: Nufar
authors.initials: N
authors.lastname: Marcus
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Takada
authors.forename: Jason
authors.initials: J
authors.lastname: Law
authors.forename: Morton J
authors.initials: MJ
authors.lastname: Cowan
authors.forename: Juana
authors.initials: J
authors.lastname: Gil
authors.forename: Jose R
authors.initials: JR
authors.lastname: Regueiro
authors.forename: Diego
authors.initials: D
authors.lastname: Plaza Lopez de Sabando
authors.forename: Eduardo
authors.initials: E
authors.lastname: Lopez-Granados
authors.forename: Jignesh
authors.initials: J
authors.lastname: Dalal
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Friedrich
authors.forename: Hoenig
authors.initials: H
authors.lastname: Manfred
authors.forename: Imelda Celine
authors.initials: IC
authors.lastname: Hanson
authors.forename: Eyal
authors.initials: E
authors.lastname: Grunebaum
authors.forename: William T
authors.initials: WT
authors.lastname: Shearer
authors.forename: Chaim M
authors.initials: CM
authors.lastname: Roifman
mesh_terms: D017252:CD3 Complex / Q000276:immunology*; D002675:Child, Preschool; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011183:Postoperative Complications / Q000453:epidemiology; D016511:Severe Combined Immunodeficiency / Q000276:immunology* / Q000601:surgery*; D019172:Transplantation Conditioning / Q000379:methods
chemical_list: D017252:CD3 Complex; C472562:CD3delta antigen