title: Treatment of Omenn syndrome by bone marrow transplantation.
abstract: 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.
authors.affiliation: Unité d'Immunologie et d'Hématologie, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Gomez
authors.forename: F
authors.initials: F
authors.lastname: Le Deist
authors.forename: S
authors.initials: S
authors.lastname: Blanche
authors.forename: M
authors.initials: M
authors.lastname: Cavazzana-Calvo
authors.forename: C
authors.initials: C
authors.lastname: Griscelli
authors.forename: A
authors.initials: A
authors.lastname: Fischer
mesh_terms: D016026:Bone Marrow Transplantation; D002066:Busulfan / Q000008:administration & dosage / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003520:Cyclophosphamide / Q000008:administration & dosage / Q000627:therapeutic use; D005260:Female; D006084:Graft Rejection / Q000517:prevention & control; D006086:Graft vs Host Disease / Q000188:drug therapy; D006680:HLA Antigens / Q000097:blood; D006239:Haplotypes; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D008297:Male; D009752:Nutritional Status; D012189:Retrospective Studies; D016511:Severe Combined Immunodeficiency / Q000628:therapy*; D013577:Syndrome
chemical_list: D006680:HLA Antigens; D007136:Immunoglobulins; D003520:Cyclophosphamide; D002066:Busulfan