PMID- 7608815
OWN - NLM
STAT- MEDLINE
DCOM- 19950811
LR  - 20190630
IS  - 0022-3476 (Print)
IS  - 0022-3476 (Linking)
VI  - 127
IP  - 1
DP  - 1995 Jul
TI  - Treatment of Omenn syndrome by bone marrow transplantation.
PG  - 76-81
AB  - We report the outcome of allogeneic bone marrow transplantation (BMT) in nine 
      consecutive patients with Omenn syndrome treated between 1980 and 1989. Five 
      patients received unmanipulated marrow from a related matched donor, and four 
      received T cell-depleted marrow from a haploidentical donor. The patients were 
      conditioned with cyclophosphamide (200 mg/kg) and, except in one case, busulfan 
      (16 mg/kg). Antithymocyte globulin and etoposide were given to three patients 
      each; three recipients of T cell-depleted haploidentical marrow also received 
      intravenous injections of an anti-leukocyte function-associated antigen type 1 
      antibody as graft rejection prophylaxis. All the patients were fed parenterally 
      for 1 to 5 months before BMT to improve nutritional status and received topical 
      corticosteroids (n = 8), systemic steroids (n = 2), etoposide (n = 1), or 
      cyclosporine (n = 1) to control T-cell activation. Engraftment occurred in four 
      of five recipients of human leukocyte antigen (HLA)-identical marrow and three of 
      four recipients of HLA-haploidentical marrow. One patient died with 
      cytomegalovirus infection. The other six patients are alive 4 to 11 years after 
      BMT, with full chimerism in all but one case. Chronic graft-versus-host disease 
      persists in one patient; the other five survivors have fully restored immune 
      function and have no manifestations of Omenn syndrome, including failure to 
      thrive. We conclude that both HLA-identical and haploidentical BMT can cure Omenn 
      syndrome, provided that parenteral nutrition and immunosuppressive therapy are 
      given before transplantation.
FAU - Gomez, L
AU  - Gomez L
AD  - Unite d'Immunologie et d'Hematologie, Hopital Necker-Enfants Malades, Paris, 
      France.
FAU - Le Deist, F
AU  - Le Deist F
FAU - Blanche, S
AU  - Blanche S
FAU - Cavazzana-Calvo, M
AU  - Cavazzana-Calvo M
FAU - Griscelli, C
AU  - Griscelli C
FAU - Fischer, A
AU  - Fischer A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Pediatr
JT  - The Journal of pediatrics
JID - 0375410
RN  - 0 (HLA Antigens)
RN  - 0 (Immunoglobulins)
RN  - 8N3DW7272P (Cyclophosphamide)
RN  - G1LN9045DK (Busulfan)
SB  - IM
MH  - *Bone Marrow Transplantation
MH  - Busulfan/administration & dosage/therapeutic use
MH  - Child
MH  - Child, Preschool
MH  - Cyclophosphamide/administration & dosage/therapeutic use
MH  - Female
MH  - Graft Rejection/prevention & control
MH  - Graft vs Host Disease/drug therapy
MH  - HLA Antigens/blood
MH  - Haplotypes
MH  - Humans
MH  - Immunoglobulins/blood
MH  - Male
MH  - Nutritional Status
MH  - Retrospective Studies
MH  - Severe Combined Immunodeficiency/*therapy
MH  - Syndrome
EDAT- 1995/07/01 00:00
MHDA- 1995/07/01 00:01
CRDT- 1995/07/01 00:00
PHST- 1995/07/01 00:00 [pubmed]
PHST- 1995/07/01 00:01 [medline]
PHST- 1995/07/01 00:00 [entrez]
AID - S0022-3476(95)70260-1 [pii]
AID - 10.1016/s0022-3476(95)70260-1 [doi]
PST - ppublish
SO  - J Pediatr. 1995 Jul;127(1):76-81. doi: 10.1016/s0022-3476(95)70260-1.