CHOP Researchers Discover New Disease that Prevents Formation of Antibodies
Children's Hospital of PhiladelphiaUsing whole exome sequencing, CHOP researchers discovered the genetic mutation responsible for a condition that prevents patients from making B cells and antibodies to fight infections. The study describing the condition, which CHOP researchers named PU.1 Mutated agammaglobulinemia (PU.MA), was published today in the Journal of Experimental Medicine.