eISSN: 1644-4124
ISSN: 1426-3912
Central European Journal of Immunology
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2/2013
vol. 38
 
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abstract:

Review paper
The 22q11 microdeletion syndrome in children

Aleksandra Lewandowicz-Uszyńska
,
Katarzyna Zwonarz
,
Joanna Chmielarska

(Centr Eur J Immunol 2013; 38 (2): 271-275)
DOI: https://doi.org/10.5114/ceji.2013.35220
Online publish date: 2013/07/08
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DiGeorge syndrome is a primary immunodeficiency with microdeletion 22q11. Prenatal diagnosis is possible. Typical disorders are heart defects of heart and large vessels, hypoplasia of the parathyroid glands, dysmorphia, no thymus and immune deficiency.

The primary problem is the heart defect requiring cardiac surgical intervention. Due to the severity of the operation, immunodeficiency often goes into the background. Infections are associated with cardiovascular abnormalities. The immune deficit is omitted without proper treatment including isolation of the patient, substitution of i.v. immunoglobulin, chemo-prophylaxis. Blood products must be irradiated. What should be applied is oncology alertness and limitation of X-ray should also be noted. A comprehensive care reduces infections and improves the quality of life.
keywords:

DiGeorge syndrome, diagnosis, standard procedure

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