Loading...
Programs such as the National Institutes of Health (NIH) Undiagnosed Diseases Program and the NIH Primary Immune Deficiency Clinic have been pivotal in defining genetic defects that predispose to rare conditions. In the case of two siblings, an 11-year-old boy and a 6-year-old girl, evaluations by these two facilities provided important insights into some aspects of the immune system.
As infants, the patients manifested complex congenital abnormalities that involved multiple body systems. The problems included neurologic complications and severe hypogammaglobulinemia. Noting the relative absence of infections (particularly viral infections) in the patients' medical histories, researchers conducted intensive laboratory investigations to bette…