Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome.
DiGeorge syndrome, or chromosome 22q11.2 deletion syndrome, is a disorder affecting multiple organ systems. The immunologist may be called on to coordinate complex medical care tailored to the specific needs and unique clinical features of each patient. This article focuses on the immune system, but patients require a holistic approach. Attention to cardiac, nutritional, and developmental needs in early infancy is important, and it is critical to identify the rare infants who require either a lymphocyte or thymus transplant. Later, speech and school issues dominate the picture. Allergies and autoimmune disorders also may be troubling for some school-age children.
Sullivan
Kathleen E
KE
Division of Allergy and Immunology, The Children's Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104-4399, USA. sullivak@mail.med.upenn.edu
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D006801:Humans