Journal of Clinical Immunology

, Volume 39, Issue 1, pp 65–74 | Cite as

Lymphocyte Apoptosis and FAS Expression in Patients with 22q11.2 Deletion Syndrome

  • Dina M. AresvikEmail author
  • Torstein Øverland
  • Kari Lima
  • Rolf D. Pettersen
  • Tore G. Abrahamsen
Original Article



Immunodeficiency is one of the key features of 22q11.2 deletion syndrome (del), and it is seen in approximately 75% of the patients. The degree of immunodeficiency varies widely, from no circulating T cells to normal T cell counts. It has been hypothesized that the low number of T cells may at least in part be due to increased apoptosis of T cells. Increased spontaneous T cell apoptosis has been reported in one patient with 22q11.2del, but this has not been further investigated.


A national cohort of patients with a proven heterozygous deletion of chromosome 22q11.2 diagnosed by FISH or MLPA and a group of age and sex matched controls were studied. Spontaneous and activation-induced apoptosis, in addition to FAS expression on lymphocytes, were measured using flow cytometry. Serum levels of FASL were analyzed using ELISA.


There was no increased spontaneous apoptosis in patients with 22q11.2del. Upon activation, anti-FAS-induced apoptosis was significantly increased in patients compared to those in controls, while there was no difference in activation induced cell death or activated cell autonomous death. We also found a significant increase in expression of FAS on freshly isolated lymphocytes from patients, while there was no difference in serum levels of FASL. Patients with congenital heart defects (CHD) had significantly higher serum levels of FASL compared to non-CHD patients.


We have shown increased FAS expression on lymphocytes from patients with 22q11.2del as well as increased levels of FASL in patients with CHD. Those changes may contribute to the pathophysiology of the 22q11.2del.


22q11.2del 22q11.2 deletion syndrome FAS FAS-L primary immunodeficiencie apoptosis 



The authors would like to thank the patients, controls, and their families for participating in the study. We thank Leiv Sandvik for valuable statistical advice. A special gratitude goes to Marianne S. Wright for valuable advice, tireless enthusiasm, and support.

This study was financed by The South-Eastern Norway Regional Health Authority, Renée, and Bredo Grimsgaard’s Foundation, Henrik Homans Foundation, and Eckbos Foundation.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Supplementary material

10875_2018_579_MOESM1_ESM.pdf (135 kb)
ESM 1 (PDF 134 kb)


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Paediatric ResearchOslo University HospitalOsloNorway
  2. 2.Department of Paediatric MedicineOslo University HospitalOsloNorway
  3. 3.Department of EndocrinologyAkershus University HospitalLørenskogNorway
  4. 4.Norwegian National Unit for Newborn ScreeningOslo University HospitalOsloNorway
  5. 5.Center for Rare Diseases, Division of Pediatric and Adolescent MedicineOslo University HospitalOsloNorway
  6. 6.University of OsloOsloNorway

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