Suksawat Yiwa, Sathienkijkanchai Achara, Veskitkul Jittima, Jirapongsananuruk Orathai, Visitsunthorn Nualanong, Vichyanond Pakit, Pacharn Punchama
Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Prannok Road, Bangkoknoi, Bangkok, 10700, Thailand.
J Clin Immunol. 2017 May;37(4):375-382. doi: 10.1007/s10875-017-0394-6. Epub 2017 Apr 20.
Patients with 22q11.2 deletion syndrome have a variable decrease in immunological parameters, especially regarding T cell counts. The aim of this study was to investigate immunological change over time and factors associated with immunological recovery among patients with 22q11.2 deletion syndrome.
Patients with 22q11.2 deletion syndrome diagnosed by fluorescence in situ hybridization (FISH) were studied. Immunological parameters were evaluated every 6 months until patients returned to normal. Infection and vaccination histories were recorded and analyzed, and Kaplan-Meier survival curves were plotted to describe resolution of immunodeficiency.
Forty-nine patients with an age range of 4 to 222 months were included. Twenty-five (51%) patients were female. In hypocalcemia, the odds ratio for CD4 lymphopenia was 17.03 (95%CI 1.82-159.23; p value = 0.01). Thirty patients (61.2%) exhibited decreased CD4+ T cell numbers, which returned to normal level in 18 (60%) patients. Median age of CD4+ T cell resolution was 2.5 years. T cell functions were abnormal in three patients. T cell functions returned to normal in all patients at a median age of 1.1 years. Six patients (13.5%) had abnormal serum immunoglobulin levels, with levels improving in four patients at 1.4 years of age. The most common infection was pneumonia (69.4%). BCG vaccination was administered in 47 of 49 patients at birth. Among 32 patients who had T cell defect, one patient developed BCGitis and one developed disseminated BCG.
Immunodeficiencies identified among patients with 22q11.2 deletion syndrome were T cell defect (65.3%) and decreased immunoglobulin levels (12.2%). Median age of CD4 resolution was 2.5 years.
22q11.2缺失综合征患者的免疫参数存在不同程度的下降，尤其是T细胞计数。本研究旨在调查22q11.2缺失综合征患者免疫功能随时间的变化以及与免疫恢复相关的因素。
对通过荧光原位杂交（FISH）诊断为22q11.2缺失综合征的患者进行研究。每6个月评估一次免疫参数，直至患者恢复正常。记录并分析感染和疫苗接种史，绘制Kaplan-Meier生存曲线以描述免疫缺陷的缓解情况。
纳入49例年龄在4至222个月之间的患者。25例（51%）为女性。在低钙血症患者中，CD4淋巴细胞减少的比值比为17.03（95%CI 1.82-159.23；p值=0.01）。30例（61.2%）患者的CD4+T细胞数量减少，其中18例（60%）患者的CD4+T细胞数量恢复至正常水平。CD4+T细胞恢复正常的中位年龄为2.5岁。3例患者的T细胞功能异常。所有患者的T细胞功能在中位年龄1.1岁时恢复正常。6例（13.5%）患者的血清免疫球蛋白水平异常，其中4例患者在1.4岁时免疫球蛋白水平有所改善。最常见的感染是肺炎（69.4%）。49例患者中有47例在出生时接种了卡介苗。在伴有T细胞缺陷的32例患者中，1例发生卡介苗感染，1例发生播散性卡介苗病。
22q11.2缺失综合征患者中发现的免疫缺陷为T细胞缺陷（65.3%）和免疫球蛋白水平降低（12.2%）。CD4恢复正常的中位年龄为2.5岁。
