Immunologic issues in VCFS/chromosome 22q11.2 deletion syndrome

Abstract

Velocardiofacial syndrome (VCFS) is characterized by conotruncal cardiac defects, palatal defects, and dysmorphic facies. VCFS is considered part of the spectrum of chromosome 22q11.2 deletion syndrome. Although the immunodeficiency was once thought to occur in patients with the clinical phenotype of DiGeorge syndrome, it is now known that any patient with chromosome 22q11.2 deletion syndrome may have a T cell defect. Fortunately, the majority of patients with chromosome 22q11.2 deletion syndrome have a mild to moderate immunodeficiency. These patients may develop recurrent infections or autoimmune disease, but infections are seldom life threatening. Less than 1% have the most serious form of the immunodeficiency requiring bone marrow or thymus transplantation.