Angelo DiGeorge (April 15, 1921-October 11, 2009)
Submitted by Alan Rogol, MD
Angelo DiGeorge, a founding member of (Lawson Wilkins) Pediatric Endocrine Society), described a form of an autosomal dominant immunodeficiency condition (Birth Defects Orig Art Series IV 1968 116). His eponymous syndrome was first considered as isolated thymic deficiency, but redefined as one of a group of disorders with the chromosomal signature resulting in monosomy of the long arm of chromosome 22, also named CATCH 22 for the associated abnormalities: Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcemia, secondary to hypoparathyroidism (Clin Rev Allerg Immunol 2001; 20:43). All appear secondary to inadequate development of the facial neural crest tissue with defective organogenesis of the pharyngeal pouch derivatives that receive cephalic neural crest contribution to the mesenchyme.