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Lookup NU author(s): Dr Andrew McLean-Tooke,
Dr Gavin Spickett,
Professor Andrew GenneryORCiD
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22q11.2 deletion syndrome is the commonest chromosome deletion syndrome. 22q11.2 deletion may result in variable clinical phenotypes which may differ even between patients with identical deletions. Abnormal pharyngeal arch development results in defects in the development of the parathyroid glands, thymus and conotruncal region of the heart. Defective thymic development is associated with impaired immune function. 'Complete' DiGeorge syndrome with total absence of the thymus and a severe T-cell immunodeficiency accounts for <0.5% of patients. The majority of patients with 22q11.2 deletion syndromes have 'partial' defects with impaired thymic development rather than complete absence with variable defects in T-cell numbers. Immunodeficiency in these patients is not solely due to T-cell deficiency and abnormalities of T-cell clonality or impairment of proliferative responses may play a role. Humoral deficiencies including defects in the B-cell compartment have also been identified in these patients. 22q11.2 deletion syndrome patients are at increased risk of a variety of autoimmune diseases. A number of immune defects may predispose to the development of autoimmunity in these patients including increased infection, impaired development of natural T-regulatory cells and impaired thymic central tolerance.
Author(s): McLean-Tooke A, Spickett GP, Gennery AR
Publication type: Review
Publication status: Published
Journal: Scandinavian Journal of Immunology
ISSN (print): 0300-9475
ISSN (electronic): 1365-3083