TREATMENT OF CHEDIAK-HIGASHI-SYNDROME BY ALLOGENIC BONE-MARROW TRANSPLANTATION - REPORT OF 10 CASES

Chediak-Higashi syndrome is a rare condition characterized by suscepti bility to bacterial infections, defective natural killer activity, and episodes of macrophage activation known as accelerated phases. Chemot herapy can induce transient remission of the accelerated phase, but re lapses become less and less sensitive to treatment and ultimately lead to death, Allogenic bone marrow transplantation (BMT) has been propos ed as a curative treatment for Chediak-Higashi syndrome, We report the outcome of BMT in 10 such children, Seven received marrow from an HLA -identical related donor and three from an HLA-nonidentical related do nor, Three patients died, two from a new accelerated phase after rejec tion of transplanted bone marrow and one from cytomegalovirus (CMV) pn eumonia. Six of seven recipients of HLA-identical marrow and one of th ree recipients of HLA-nonidentical marrow are alive and well without t reatment 1.5 to 13 years after transplantation (median, 6.5 years), No manifestations of accelerated phases have occurred in these seven pat ients, and significant natural killer activity is detectable, Interest ingly, BMT prevented recurrence of accelerated phases in patients with limited numbers of donor-type leukocytes after transplantation. Ocula r and cutaneous albinism were not corrected after transplantation. Non e of the patients developed serious toxic reactions to the BMT conditi oning regimen or have long-term sequelae, These results show that HLA- identical BMT is an acceptable curative treatment for Chediak-Higashi syndrome, whereas HLA-nonidentical BMT remains an experimental approac h. (C) 1995 by The American Society of Hematology.