Dar Nina, Gothelf Doron, Korn David, Frisch Amos, Weizman Abraham, Michaelovsky Elena, Carmel Miri, Yeshayahu Yonatan, Dubnov-Raz Gal, Pessach Itai M, Simon Amos J, Lev Atar, Somech Raz
1] Pediatric Department B and Immunology Services, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, Israel [2] The Behavioral Neurogenetics Center, Sheba Medical Center, Tel Hashomer, Israel [3] Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
1] The Behavioral Neurogenetics Center, Sheba Medical Center, Tel Hashomer, Israel [2] Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Pediatr Res. 2015 Apr;77(4):579-85. doi: 10.1038/pr.2015.14. Epub 2015 Jan 12.
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.
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.
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.
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.
22q11.2缺失综合征（22q11.2DS）是一种先天性多系统异常疾病，其特征为典型的面部特征、腭部异常、先天性心脏缺陷、低钙血症、免疫缺陷以及认知和神经精神症状。我们研究的目的是调查与22q11.2DS相关的T淋巴细胞和B淋巴细胞特征。
分别通过检测T细胞受体重排切除环（TRECs）和B细胞κ链缺失重排切除环（KRECs），对75例22q11.2DS患者的T淋巴细胞和B淋巴细胞进行检测。
22q11.2DS患者的TRECs水平较低，而KRECs水平正常。在22q11.2DS组中，TREC与KREC之间存在显著正相关，而在对照组中则无此相关性。TREC和KREC水平均随年龄显著降低，且在反复感染的22q11.2DS患者中只有TREC水平较低。接受心脏手术（有或无胸腺切除术）的22q11.2DS患者与未接受手术的患者之间，TREC水平无差异。
22q11.2DS中的T细胞免疫缺陷包括TREC水平较低，这可能导致该综合征患者反复感染。已确定22q11.2DS中T细胞和B细胞异常之间存在相关性。B细胞异常可能是22q11.2DS中所见免疫缺陷的部分原因。
