Congenital T cell deficiency in a patient with CHARGE syndrome.

ABSTRACT: CHARGE syndrome is an autosomal dominant condition caused by mutations in chromodomain helicase DNA-binding 7. We report a patient with molecularly confirmed CHARGE syndrome, which included a congenital T cell deficiency, who was treated with peripheral blood mononuclear cell transplantation.

SUBMITTER: Hoover-Fong J 

PROVIDER: S-EPMC4293037 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature