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Immunological aspects of 22q11.2 deletion syndrome

Lookup NU author(s): Professor Andrew GenneryORCiD


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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.

Publication metadata

Author(s): Gennery AR

Publication type: Review

Publication status: Published

Journal: Cellular and Molecular Life Sciences

Year: 2012

Volume: 69

Issue: 1

Pages: 17-27

Print publication date: 09/10/2011

ISSN (print): 1420-682X

ISSN (electronic): 1420-9071



DOI: 10.1007/s00018-011-0842-z