Successful engraftment of unrelated cord blood stem cells for familial erythrophagocytic lymphohistiocytosis. Kinki Cord Blood Bank.

Familial erythrophagocytic lymphohistiocytosis (FEL) is an autosomal recessive disorder that can only be corrected by stem cell transplantation. One of our patients with FEL in second complete remission underwent successful cord blood stem cell transplantation (CBSCT); the donor was an HLA one-locus mismatched and unrelated individual. The conditioning regimen consisted of BU/CY/VP-16. The transfused cell dose was 6.8 x 10(7)/kg, which contained 1.36 x 10(5)/kg of CD34 cells and 3.4 x 10(4)/kg of CFU-GM. After CBSCT, there were no major infectious complications. Acute grade I GVHD was well controlled. Neutrophil counts reached >0.5 x 10(9)/l by day 20 and platelet counts reached >50 x 10(9)/l by day 40. Deficient natural killer activity returned to normal after the transplant. The patient recovered well more than 7 months after receiving CBSCT, without showing evidence of chronic GVHD. We recommend CBSCT for FEL patients who have no HLA-matched siblings or unrelated donors.