Broome C B, Graham M L, Saulsbury F T, Hershfield M S, Buckley R H
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
J Pediatr. 1996 Mar;128(3):373-6. doi: 10.1016/s0022-3476(96)70285-8.
Deficiency of the purine salvage pathway enzyme purine nucleoside phosphorylase causes a combined immunodeficiency and neurologic abnormalities and is usually fatal in childhood. We report the first successful transplantation of bone marrow from a sibling with identical class II human leukocyte antigens in this condition, demonstrating correction of both lymphocyte metabolic and functional abnormalities.
嘌呤补救途径酶嘌呤核苷磷酸化酶的缺乏会导致联合免疫缺陷和神经学异常，且通常在儿童期致命。我们报告了在此种情况下首例成功进行的来自具有相同II类人类白细胞抗原的同胞的骨髓移植，证明了淋巴细胞代谢和功能异常均得到纠正。
