Treatment of Omenn syndrome by bone marrow transplantation

J Pediatr. 1995 Jul;127(1):76-81. doi: 10.1016/s0022-3476(95)70260-1.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Marrow Transplantation*
  • Busulfan / administration & dosage
  • Busulfan / therapeutic use
  • Child
  • Child, Preschool
  • Cyclophosphamide / administration & dosage
  • Cyclophosphamide / therapeutic use
  • Female
  • Graft Rejection / prevention & control
  • Graft vs Host Disease / drug therapy
  • HLA Antigens / blood
  • Haplotypes
  • Humans
  • Immunoglobulins / blood
  • Male
  • Nutritional Status
  • Retrospective Studies
  • Severe Combined Immunodeficiency / therapy*
  • Syndrome

Substances

  • HLA Antigens
  • Immunoglobulins
  • Cyclophosphamide
  • Busulfan