Abstract：
Purine nucleoside phosphorylase deficient severe combined immunodeficiency (PNP SCID) is one of the rare autosomal recessive primary immunodeficiency disease, and the data on epidemiology and outcome are limited. We report the successful management of a child with PNP SCID and present a systematic literature review of published case reports, case series, and cohort studies on PNP SCID listed in PubMed, Web of Science, and Scopus from 1975 until March 2022. Forty-one articles were included from the 2432 articles retrieved and included 100 PNP SCID patients worldwide. Most patients presented with recurrent infections, hypogammaglobulinaemia, autoimmune manifestations, and neurological deficits. There were six reported cases of associated malignancies, mainly lymphomas. Twenty-two patients had undergone allogeneic hematopoietic stem cell transplantation with full donor chimerism seen mainly in those receiving matched sibling donors and/or conditioning chemotherapy before the transplant. This research provides a contemporary, comprehensive overview on clinical manifestations, epidemiology, genotype mutations, and transplant outcome of PNP SCID. These data highlight the importance of screening for PNP SCID in cases presented with recurrent infections, hypogammaglobulinaemia, and neurological deficits.
摘要：
嘌呤核苷磷酸化酶缺乏型重度联合免疫缺陷(PNP一SCID)是一种罕见的常染色体隐性遗传原发性免疫缺陷病,和流行病学和结果的数据是有限的。我们报告了PNPSCID患儿的成功治疗，并对已发表的病例报告进行了系统的文献综述。案例系列,和PubMed中列出的PNPSCID的队列研究，WebofScience,和Scopus从1975年到2022年3月。从检索的2432篇文章中纳入了41篇文章，其中包括全球100名PNPSCID患者。大多数患者出现反复感染，低球蛋白血症,自身免疫表现，和神经缺陷。报告有6例相关恶性肿瘤，主要是淋巴瘤.22例患者接受了异基因造血干细胞移植，完全供体嵌合状态主要见于那些在移植前接受匹配的同胞供体和/或预处理化疗的患者。这项研究提供了一个当代的，全面概述临床表现，流行病学,基因型突变，和PNPSCID的移植结果。这些数据强调了在反复感染病例中筛查PNPSCID的重要性。低球蛋白血症,和神经缺陷。
