CORRECTION OF AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME BY BONE-MARROW TRANSPLANTATION

This report describes a child with a severe phenotype of autoimmune ly mphoproliferative syndrome (ALPS) who developed progressive disease re quiring stem cell transplantation. This severe form of ALPS was associ ated with a novel Fas gene splice site mutation that resulted in funct ional deletion of exons 8 and 9, While this child shared many clinical features with previously described ALPS cases, including massive lymp hadenopathy and circulating alpha beta(+) CD3(+)CD4(-)CD8(-) T cells, his disease progressed despite immunosuppressive therapy to a clinical ly aggressive oligoclonal lymphoproliferation which resembled a diffus e large cell non-Hodgkin's lymphoma. After partial remission was achie ved with cytotoxic therapy the patient underwent BMT from an unrelated donor. This is the first reported case of ALPS in which BMT was succe ssfully attempted for correction of a Fas deficiency.