Hirschhorn R, Roegner V, Rubinstein A, Papageorgiou P
J Clin Invest. 1980 Mar;65(3):768-71. doi: 10.1172/JCI109725.
We have determined concentrations of adenosine, deoxyadenosine, and deoxyATP (dATP) in cord blood from an infant prenatally diagnosed as ADA deficient. Plasma deoxyadenosine and adenosine were already elevated in cord blood (0.7 and 0.5 microM vs. normal of less than 0.07 microM). Elevation of plasma deoxyadenosine has not previously been documented in these children. Erythrocyte dATP content was also elevated at birth (215 nmol/ml packed erythrocytes vs. normal of 2.9). These elevated concentrations of adenosine, deoxyadenosine, and dATP are similar to those we observed in another older adenosine deaminase-deficient patient and may explain the impaired immune function and lymphopenia seen at birth.
我们测定了一名产前诊断为腺苷脱氨酶（ADA）缺乏的婴儿脐带血中腺苷、脱氧腺苷和脱氧三磷酸腺苷（dATP）的浓度。脐带血中血浆脱氧腺苷和腺苷已经升高（分别为0.7和0.5微摩尔，而正常水平低于0.07微摩尔）。此前在这些儿童中尚未记录到血浆脱氧腺苷升高的情况。出生时红细胞dATP含量也升高（每毫升压积红细胞中为215纳摩尔，而正常水平为2.9）。腺苷、脱氧腺苷和dATP的这些升高浓度与我们在另一名年龄较大的腺苷脱氨酶缺乏患者中观察到的情况相似，可能解释了出生时出现的免疫功能受损和淋巴细胞减少。
