Angelo Mario DiGeorge

Angelo M. DiGeorge (right) with Robert J. Shprintzen, 2002 in Rome

Angelo Mari (o) DiGeorge (born April 15, 1921 in Philadelphia , † October 11, 2009 in East Falls, Philadelphia) was an Italian-American pediatrician and endocrinologist . He became known for his research on the autosomal dominant inherited immunodeficiency syndrome (a T-cell defect ), which was named after him ( DiGeorge syndrome ). Many of those affected die of heart disease and infectious diseases in childhood. Few of them reach adulthood. It is considered a rare disease .

Life and education

His parents, who immigrated to the United States from Italy, were Antonio and Emilia (née Taraborelli) di Georgio. Angelo Mario di Georgio was born on April 15, 1921 in the south of the city of Philadelphia. In elementary school, his teacher Anglicized his last name and shortened his middle name with M. In 1939 DiGeorge finished his school years at the South Philadelphia High School for Boys as the best of his year. So he got a scholarship from Temple University . He completed his chemistry studies there with distinction in 1943 . In 1946 he received his doctorate with distinction from the medical faculty there . From 1947 to 1949 he served as medical director of the US military hospital in Linz on the Danube . On his return to Philadelphia, he met his future wife, the nurse Natalie Picarello, in the university hospital. Angelo DiGeorge Mario finished his specialist training to the pediatrician at St. Christopher's Hospital and then worked in 1954 as a postdoctoral fellow in endocrinology at Jefferson Medical College .

Professional career

Since 1952 he worked in the Children's Hospital of the Temple University School of Medicine . He became Professor of Pediatrics in 1967 and retired in 1991 . He was also a doctor at St. Christopher's Hospital, where he headed the Department of Endocrinology and Metabolic Diseases from 1961 to 1989 . From 1965 to 1982 he was also director of the pediatric research center there. From 1987 to 1992 he served on the board of the American Board of Pediatrics . He was a founding member and 1983/1984 President of the Lawson-Wilkins Pediatric Endocrine Society . He was the lead author of the endocrinology chapter of the Nelson Textbook of Pediatrics ; For more than 40 years this textbook was considered the green bible of paediatrics.

He received international recognition around 1965 for his groundbreaking discovery of congenital thymus agenesis and the symptoms associated with it. This genetic defect is now called DiGeorge syndrome, velokardiofaziales syndrome , pharyngeal pouch syndrome , Shprintzen syndrome , CATCH 22 syndrome and mainly microdeletion 22q11 . Most people are missing a small part of the genes on the long arm of chromosome 22 . This extensive clinical picture is characterized by more than 200 different defects. In addition to complete or partial thymus agenesis , the parathyroid glands can also be completely or partially absent. It can also lead to heart defects , typical facial changes, malformations of the upper lip and learning disabilities . Both thymus malformation and parathyroid malformation are now considered to be different manifestations of the same disease at different stages of life.

DiGeorge syndrome is one of the most common hereditary diseases . After Down syndrome , no congenital disease causes more congenital heart defects than DiGeorge syndrome. Around one child in 4,000 live births is affected. Angelo Mario DiGeorge's report from 1965 and his original work from 1968 are frequently cited in the scientific literature.

Pinski-DiGeorge-Harley-Baird syndrome (or Pinski-George-Harley-Baird syndrome or Pinsky-DiGeorge-Harley-Baird syndrome ) is also named after Angelo Mario DiGeorge as a complex oculocerebral (presumably autosomal recessive inherited) malformation syndrome been; it is one of the mandibular arch syndromes . The Pinski-DiGeorge-Harley syndrome (which is identical to it?) Is a microphthalmia with mental retardation . It is not to be confused with oculo-cerebro-renal syndrome ( Lowe's syndrome ).

DiGeorge had extensive interests. His hobbies included gardening, stamp collecting , debating of all kinds, and Philadelphia Phillies sports .

In 2002 he met in Rome on the congress deletion 22q11 first time with the speech therapist Robert J. Shprintzen (see photo above) together. Angelo Mario DiGeorge died on October 11, 2009 of kidney failure . His widow Natalie died on June 14, 2017; the couple had three children: Anthony, Anita Brister and Christopher.

Web links

Commons : Angelo DiGeorge  - collection of images, videos and audio files

• Angelo Mari DiGeorge at whonamedit.com

Individual evidence

1. ↑ Luigi Tarani, Maria C. Digilio, Bruno Dallapiccola, Donna M. Mc Donald-McGinn, Bruno Marino: Obituary of Dr. Angelo Di George. In: Italian Journal of Pediatrics. 36, 2010, p. 22, doi: 10.1186 / 1824-7288-36-22 .
2. ↑ Nelson Textbook of Pediatrics , 20th Edition, 2 volumes, Philadelphia 2016, Elsevier , ISBN 978-1-4557-7566-8 .
3. ^ A comment on another paper: M. Cooper, R. Peterson, R. Good (1965): "A new concept of the cellular basis of immunity". The Journal of Pediatrics , Volume 67, Issue 5, Part 2, pp. 907–908. doi: 10.1016 / S0022-3476 (65) 81796-6 .
4. ↑ Angelo Mario DiGeorge: Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism . IV (1). White Plains , NY: March of Dimes - Birth Defects Foundation; 1968, pp. 116-121.
5. ↑ L. Pinsky, Angelo Mario DiGeorge, RD Harley, HW Baird: Microphthalmos, Corneal Opacity, Mental Retardation, and Spastic Cerebral Palsy: an Oculocerebral Syndrome , in: The Journal of Pediatrics , 67th year, September 1965, p. 387– 398; doi: 10.1016 / s0022-3476 (65) 80399-7 .
6. ^ Günter Thiele (ed.): Handlexikon der Medizin, Volume 3 (L – R), Urban & Schwarzenberg , Munich, Vienna, Baltimore without year, p. 1912.
7. ↑ Walter F. Naedele. "Angelo M. DiGeorge, 1921-2009, A St. Christopher's pioneer on ailment". The Philadelphia Inquirer, October 19, 2009, philly.com. Retrieved November 2, 2014.