Cellular and Molecular Life Sciences

, Volume 69, Issue 1, pp 17–27 | Cite as

Immunological aspects of 22q11.2 deletion syndrome

  • A. R. GenneryEmail author
Multi-author review


Chromosome 22q11 deletion is the most common chromosomal deletion syndrome and is found in the majority of patients with DiGeorge syndrome and velo-cardio-facial syndrome. Patients with CHARGE syndrome may share similar features. Cardiac malformations, speech delay, and immunodeficiency are the most common manifestations. The immunological phenotype may vary widely between patients. Severe T lymphocyte immunodeficiency is rare—thymic transplantation offers a new approach to treatment, as well as insights into thymic physiology and central tolerance. Combined partial immunodeficiency is more common, leading to recurrent sinopulmonary infection in early childhood. Autoimmunity is an increasingly recognized complication. New insights into pathophysiology are reviewed.


22q11 deletion DiGeorge syndrome Velo-cardio-facial syndrome CHARGE syndrome Autoimmunity 


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© Springer Basel AG 2011

Authors and Affiliations

  1. 1.Institute of Cellular Medicine, Old Children’s OutpatientsRoyal Victoria InfirmaryNewcastle upon TyneUK

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