immunology allergic disorders
DiGeorge Syndrome
Introduction
DiGeorge syndrome is thymic and parathyroid hypoplasia or aplasia leading to T-cell immunodeficiency and hypoparathyroidism. Infants with DiGeorge syndrome have low-set ears, midline facial clefts, a small receding mandible, hypertelorism, a shortened philtrum, developmental delay, and congenital heart disorders. Diagnosis is based on clinical findings and includes assessments of immune and parathyroid function and chromosome analysis. Treatment includes supportive measures and, if severe, thymus or stem cell transplantation. (See also Overview of Immunodeficiency Disorders and DiGeorge syndrome is a Primary Immunodeficiencies that involves DiGeorge syndrome may be Partial: Some T-cell function exists Complete: T-cell function is absent Patients may have Overview of Congenital Cardiovascular Anomalies (eg, interrupted aortic arch, truncus arteriosus, tetralogy of Fallot, atrial or ventricular septal defects). They also may have thymic and parathyroid hypoplasia or aplasia, causing T-cell deficiency and 