Barrio Corrales F, Madero L, Zabay J M, Ludeña M C, Gómez de la Concha E, Lozano C, Sainz T
An Esp Pediatr. 1983 Mar;18(3):248-53.
Two brothers with a PNP deficit are reported. The first case presented recurrent upper respiratory infections and died of a sepsis by pseudomonas. The second one was diagnosed when he was six months old and remains asymptomatic. Immunologic tests revealed a deficit of T cell mediated immunity. Treatment consisted on radiated erythrocytes transfusions because HLA compatible donors were not available.
报道了两例伴有嘌呤核苷磷酸化酶（PNP）缺陷的兄弟。第一例表现为反复上呼吸道感染，死于铜绿假单胞菌败血症。第二例在6个月大时被诊断出来，目前无症状。免疫测试显示T细胞介导的免疫功能缺陷。由于无法获得HLA匹配的供体，治疗采用辐照红细胞输血。
