Immunologic defects in 22q11.2 deletion syndrome.
Andrew McLean-Tooke1, Dawn Barge, Gavin P Spickett
1Department of Immunology, Royal Victoria Infirmary, Newcastle-Upon-Tyne, United Kingdom. andymctooke@yahoo.co.uk
The Journal of Allergy and Clinical Immunology
|May 20, 2008
Summary
Children with 22q11.2 deletion syndrome have fewer natural regulatory T (nTreg) cells, indicating thymic dysfunction. This study also reveals subtle B-cell defects in these patients.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- 22q11.2 deletion syndrome is the most common congenital chromosome deletion.
- It is linked to cardiac defects, thymic abnormalities, and immune deficiencies.
- Patients experience increased infections and autoimmune diseases.
Purpose of the Study:
- To investigate the immunologic profile of children with 22q11.2 deletion syndrome.
- To explore the relationship between thymic function and immune cell populations.
Main Methods:
- Flow-cytometric analysis of peripheral blood lymphocytes.
- Comparison of 27 children with 22q11.2 deletion syndrome and 54 healthy controls.
Main Results:
- Patients showed decreased T-cell numbers, with slower age-related decline.
- A significant reduction in natural regulatory T (nTreg) cells was observed, correlating with thymic emigrants.
- While total B-cells were normal, memory B-cell proportion was decreased.
Conclusions:
- Reduced nTreg cells suggest impaired thymic function in generating and maintaining these cells.
- Beyond T-cell issues, subtle B-cell compartment defects are present in 22q11.2 deletion syndrome.
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