Myers Laurie A, Hershfield Michael S, Neale Wirt T, Escolar Maria, Kurtzberg Joanne
Division of Allergy and Immunology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
J Pediatr. 2004 Nov;145(5):710-2. doi: 10.1016/j.jpeds.2004.06.075.
Purine nucleoside phosphorylase deficiency is a primary immunodeficiency syndrome characterized by the triad of recurrent infection, neurologic dysfunction, and autoimmunity. This patient presented atypically with few infections and normal T-cell function. Progressive lymphopenia, ataxia, and developmental delay led to diagnosis. Umbilical cord blood transplantation corrected the immunodeficiency.
嘌呤核苷磷酸化酶缺乏症是一种原发性免疫缺陷综合征，其特征为反复感染、神经功能障碍和自身免疫三联征。该患者表现不典型，感染较少且T细胞功能正常。进行性淋巴细胞减少、共济失调和发育迟缓导致了诊断。脐带血移植纠正了免疫缺陷。
