Durandy A, Cerf-Bensussan N, Dumez Y, Griscelli C
Prenat Diagn. 1987;7(1):27-34. doi: 10.1002/pd.1970070106.
The immunodeficiency associated with a defective expression of HLA molecules is an autosomal recessive disorder leading to death during childhood. We have performed prenatal diagnosis for six fetuses at risk for this disease by membrane immunofluorescence on blood lymphocytes and monocytes, using specific monoclonal antibodies for HLA class I and II molecules. Two pregnancies have been found to be affected. The diagnosis has been confirmed on each abortus by the study of the membrane expression of HLA class I and II molecules on blood lymphocytes and monocytes, and on thymic and splenic cells. The four other cases were found to be normal both during pregnancy and after birth. The detection of the defect as early as the 20th week of gestation allows selective termination.
与人类白细胞抗原（HLA）分子表达缺陷相关的免疫缺陷是一种常染色体隐性疾病，可导致儿童期死亡。我们通过使用针对HLAⅠ类和Ⅱ类分子的特异性单克隆抗体，对血淋巴细胞和单核细胞进行膜免疫荧光检测，对6名有患此病风险的胎儿进行了产前诊断。发现有2例妊娠受到影响。通过研究血淋巴细胞、单核细胞以及胸腺和脾细胞上HLAⅠ类和Ⅱ类分子的膜表达，对每一例流产胎儿均确诊了该疾病。另外4例在孕期及出生后均被发现正常。早在妊娠第20周就能检测到缺陷，从而可以选择终止妊娠。
