Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

DiGeorge Anomaly (del22q11)

  • Sonia JoychanEmail author
  • Panida Sriaroon
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_174-1

Synonyms

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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References

  1. Abbas AK, Lichtman AH, Pillai S. Cellular and molecular immunology. 8th ed. Philadelphia: Elsevier Saunders; 2015. viii, 535 pages.Google Scholar
  2. Adkinson NF, Middleton E. Middleton’s allergy: principles and practice. 8th ed. Philadelphia: Elsevier/Saunders; 2014. 2 volumes (xxvii, 1690, I–74 pages).Google Scholar
  3. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007;370(9596):1443–52.CrossRefGoogle Scholar
  4. McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle: University of Washington; 1993. https://www.ncbi.nlm.nih.gov/books/NBK1523/
  5. McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015;1:15071.CrossRefGoogle Scholar
  6. Pai S, Notarangelo L. In: Hoffman R, Benz E, Silberstein L, Heslop H, Weitz J, Anastasi J, editors. Hematology: basic principles and practice. 7th ed. Philadelphia: Elsevier; 2018. p. 710–23.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Division of Allergy and ImmunologyUniversity of South Florida/Johns Hopkins All Children’s HospitalTampaUSA

Section editors and affiliations

  • Jolan Walter
    • 1
  1. 1.USF HealthTampaUSA