Definition
DiGeorge syndrome is a primary immunodeficiency caused by a defect in chromosome 22, often resulting in T cell lymphopenia, congenital heart disease, hypocalcemia, and characteristic facies.
Introduction/Background
DiGeorge anomaly, also known as DiGeorge syndrome (DGS), or 22q11.2 deletion syndrome, arises from failure of differentiation and migration of neural crest cells into the third and fourth pharyngeal arches during early embryogenesis, resulting in hypoplasia or aplasia of the thymus and parathyroid glands as well as other structures that are derived from the pharyngeal arch system, including craniofacial structures, the aortic arch, and cardiac outflow tract (McDonald-McGinn et al. 2015). The syndrome, first described by Dr. Angelo DiGeorge in 1965, originally included infants with thymic aplasia and hypoparathyroidism. The definition was later expanded to include...
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Joychan, S., Sriaroon, P. (2019). DiGeorge Anomaly (del22q11). In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_174-1
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DOI: https://doi.org/10.1007/978-1-4614-9209-2_174-1
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