Thymic and bone marrow output in individuals with 22q11.2 deletion syndrome

Nina Dar, Doron Gothelf, David Korn, Amos Frisch, Abraham Weizman, Elena Michaelovsky, Miri Carmel, Yonatan Yeshayahu, Gal Dubnov-Raz, Itai M. Pessach, Amos J. Simon, Atar Lev, Raz Somech

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


Background:The 22q11.2 deletion syndrome (22q11.2DS) is a congenital multisystem anomaly characterized by typical facial features, palatal anomalies, congenital heart defects, hypocalcemia, immunodeficiency, and cognitive and neuropsychiatric symptoms. The aim of our study was to investigate T- and B-lymphocyte characteristics associated with 22q11.2DS.Methods:Seventy-five individuals with 22q11.2DS were tested for T and B lymphocytes by examination of T-cell receptor rearrangement excision circles (TRECs) and B-cell κ-deleting recombination excision circles (KRECs), respectively.Results:The 22q11.2DS individuals displayed low levels of TRECs, while exhibiting normal levels of KRECs. There was a significant positive correlation between TREC and KREC in the 22q11.2DS group, but not in controls. Both TREC and KREC levels showed a significant decrease with age and only TREC was low in 22q11.2DS individuals with recurrent infections. No difference in TREC levels was found between 22q11.2DS individuals who underwent heart surgery (with or without thymectomy) and those who did not.Conclusion:T-cell immunodeficiency in 22q11.2DS includes low TREC levels, which may contribute to recurrent infections in individuals with this syndrome. A correlation between T- and B-cell abnormalities in 22q11.2DS was identified. The B-cell abnormalities could account for part of the immunological deficiency seen in 22q11.2DS.

Original languageEnglish
Pages (from-to)579-585
Number of pages7
JournalPediatric Research
Issue number4
StatePublished - 19 Apr 2015
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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