Hypercalcemia FOllowing Umbilical Cord Blood Transplantation to Correct Osteopetrosis Associated with the Nemo Mutation

X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is a congenital developmental and immunologic disorder, which often causes osteopetrosis. These individuals are susceptible to infection with various microorganisms, and most patients die of infection before reaching maturity. Hematopoietic stem cell transplantation (HSCT) is considered the only cure for this disorder. When HSCT is performed in patients with osteopetrosis, on the other hand, transient hypercalcemia often occurs in these patients. We report a XL-EDA-ID patient with osteopetrosis who experienced hypercalcemia and resolution of bone changes after cord blood transplantation. Hirosaki Med.J. 64, Supplement:S86―S89,2013