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Immunologic defects in 22q11.2 deletion syndrome

Lookup NU author(s): Dr Andrew McLean-Tooke, Dr Gavin Spickett, Professor Andrew GenneryORCiD


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Background: 22q11.2 Deletion syndrome, the most common congenital chromosome deletion syndrome, is associated with developmental defects including cardiac abnormalities and hypoplasia or abnormal migration of the thymus. These patients have variable defects in T-cell immunity with an increased incidence of infection and autoimmune disease. Objective: To investigate the immunologic constitution (if children with 22q11.2 deletion syndrome. Methods: We characterized the immunologic constitution of 27 children with 22q11.2 deletion syndrome and 54 healthy controls by flow-cytometric analysis of peripheral blood. lymphocyte populations. Results: Patients exhibited decreased T-cell numbers, although the normal age-related decrease in T-cell numbers was slower than in healthy children. There was a significant decrease in FoxP3(+) natural regulatory T (nTreg) cells with a strong correlation between nTreg cells and recent T-cell emigrants from the thymus, suggesting a link between the nTreg cell population and thymic function. Although total B-cell numbers were unaffected, patients showed a significantly decreased proportion of memory B cells in the B-cell pool. Conclusion: Lower nTreg cells in patients suggest that the generation and maintenance of these cells in children is related to thymic function. In addition to T-cell abnormalities classically seen in this syndrome, subtle defects in the B-cell compartment may also be seen.

Publication metadata

Author(s): McLean-Tooke A, Barge D, Spickett GP, Gennery AR

Publication type: Article

Publication status: Published

Journal: Journal of Allergy and Clinical Immunology

Year: 2008

Volume: 122

Issue: 2

Pages: 362-367

ISSN (print): 0091-6749

ISSN (electronic): 1097-6825

Publisher: Mosby, Inc.


DOI: 10.1016/j.jaci.2008.03.033


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