First example of anti-Kx in a person with the McLeod phenotype and withoutchronic granulomatous disease

BACKGROUND: Kx is lacking in the RBCs of patients with the McLeod syndrome. This condition is sometimes associated with chronic granulomatous disease (CGD). If given allogeneic RBCs, CGD patients with the McLeod phenotype may produce anti-Kx and anti-Km, and only phenotypically matched McLeod blood would be compatible. McLeod phenotype persons without CGD have made anti-Km but not anti-Kx (2 examples), and thus both McLeod and K-o blood would be compatible. CASE REPORT: RBCs from a transfused patient with the McLeod phenotype but n ot with CGD (non-CGD McLeod) were typed for the Kell blood group antigens, and the plasma was analyzed for the presence of antibody by agglutination. The molecular basis was determined by analyzing for XK protein on RBC membr anes by Western immunoblotting, by sequencing the XK gene, and by RFLP. RESULTS: The RBCs did not react with anti-Kx + anti-Km and showed weakening of Kell system antigens. The patient's plasma reacted moderately (2+) with RBCs of common Kell type and strongly (4+) with K-o RBCs and RBCs of commo n Kelt type treated with dithiothreitol, and did not react with McLeod RBCs . XK protein was absent from the RBC membranes. The XK gene had a point mut ation in the donor splice site of intron 1 (G>C). CONCLUSION: This is the first report describing the molecular alteration in a non-CGD McLeod patient who has made anti-Kx. The immune response of peop le with the McLeod phenotype can vary, and K-o blood may not always be comp atible.