TREATMENT OF OMENN SYNDROME BY BONE-MARROW TRANSPLANTATION

We report the outcome of allogeneic bane marrow transplantation (BMT) in nine consecutive patients with Omenn syndrome treated between 1980 and 1989, Five patients received unmanipulated marrow from a related m atched donor, and four received T cell-depleted marrow from a haploide ntical donor, The patients were conditioned with cyclophosphamide (200 mg/kg) and, except in one case, busulfan (16 mg/kg), Antithymocyte gl obulin and etoposide were given to three patients each; three recipien ts of T cell-depleted haploidentical marrow also received intravenous injections of an anti-leukocyte function-associated antigen type 1 ant ibody as graft rejection prophylaxis. All the patients were fed parent erally for 1 to 5 months before BMT to improve nutritional status and received topical corticosteroids (n = 8), systemic steroids (n = 2), e toposide (n = 1), or cyclosporine (n = 1) to central T-cell activation . Engraftment occurred in four of five recipients of human leukocyte a ntigen (HLA)-identical marrow and three of four recipients of HLA-hapl oidentical marrow. One patient died with cytomegalovirus infection, Th e other six patients are alive 4 to 11 years after BMT, with full chim erism in all but one case. Chronic graft-versus-host disease persists in one patient; the other five survivors have fully restored immune fu nction 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 immun osuppressive therapy are given before transplantation.