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Lookup NU author(s): Professor Andrew GenneryORCiD
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Purpose of review22q11 deletion syndrome is the most common genetic abnormality. More patients are surviving cardiac surgery, and many do not have cardiac anomalies. Adult patients are now being described. It is important for paediatricians, and increasingly adult physicians, to be aware of the optimum management of these patients.Recent findingsThree main immunological patterns are recognized, namely, athymic and incomplete 22q11 deletion syndrome and autoimmunity. Newborn screening for severe combined immunodeficiency detects athymic patients, although diagnosis may be complicated, and instructive cases are described. Incomplete 22q11 deletion syndrome is the most common presentation; new findings predict which patients are likely to experience significant infection. B lymphocyte deficiencies are often overlooked. Data regarding autoimmunity in adult patients is reported, as well as newly reported immunological findings. Finally, management guidelines are now published, and these are highlighted.SummaryNewborn screening detects patients with athymic 22q11 deletion syndrome, but significant illness may complicate the picture, and dual diagnoses can confound treatment. Treatment options for these patients are becoming clearer. Hypoparathyroidism is associated with more severe infection, and immunoglobulin abnormalities are more common than previously recognized. Adult patients are symptomatic and management guidelines will help general physicians in managing these patients.
Author(s): Gennery AR
Publication type: Review
Publication status: Published
Journal: Current Opinion in Pediatrics
Year: 2013
Volume: 25
Issue: 6
Pages: 730-735
Print publication date: 01/12/2013
ISSN (print): 1040-8703
ISSN (electronic): 1531-698X
Publisher: LIPPINCOTT WILLIAMS & WILKINS
URL: http://dx.doi.org/10.1097/MOP.0000000000000027
DOI: 10.1097/MOP.0000000000000027
