Borkowsky W, Gershon A A, Shenkman L, Hirschhorn R
Pediatr Res. 1980 Jul;14(7):885-9. doi: 10.1203/00006450-198007000-00009.
A child diagnosed at birth as deficient in red blood cell adenosine deaminase (ADA) but with substantial residual lymphocyte ADA has been evaluated for two and one-half years. The only immunologic abnormality observed was hypogammaglobulinemia during the fifth month of life. This was unexpected because children with total ADA deficiency either have severe combined immunodeficiency or selectively greater impairment of cellular than humoral immunity. The absence of severe combined immunodeficiency in this child was associated with normal lymphocyte content of ATP, dATP, and cyclic 3'5'-adenosine monophosphate, potentially toxic metabolites which are elevated in ADA-deficient immunodeficient children.
一名出生时被诊断为红细胞腺苷脱氨酶（ADA）缺乏但淋巴细胞ADA有大量残留的儿童已接受了两年半的评估。观察到的唯一免疫异常是在出生后第五个月出现低丙种球蛋白血症。这是出乎意料的，因为完全缺乏ADA的儿童要么患有严重联合免疫缺陷，要么细胞免疫比体液免疫有选择性地受到更大损害。该儿童没有严重联合免疫缺陷与ATP、dATP和环磷酸腺苷（3'5'-腺苷单磷酸）的淋巴细胞含量正常有关，这些潜在的毒性代谢产物在ADA缺乏的免疫缺陷儿童中会升高。
