Celmeli Fatih, Turkkahraman Doga, Uygun Vedat, la Marca Giancarlo, Hershfield Michael, Yesilipek Akif
Department of Pediatric Allergy-Immunology, Antalya Education and Research Hospital, Antalya, Turkey.
Pediatr Transplant. 2015 Mar;19(2):E47-50. doi: 10.1111/petr.12413. Epub 2014 Dec 17.
PNP deficiency is a rare combined immunodeficiency with autosomal recessive mode of inheritance. The immunodeficiency is progressive with normal immune functions at birth, but then, T-cell deficiency with variable B-cell functions usually presents by the age of two yr. The only curative treatment for PNP deficiency is hematopoietic stem cell transplantation. Here, we present a 13-yr-old girl with late-onset PNP deficiency. Despite many complications of infections, she was successfully transplanted with a reduced intensity-conditioning regimen from an HLA-identical unrelated donor.
嘌呤核苷磷酸化酶（PNP）缺乏症是一种罕见的常染色体隐性遗传的联合免疫缺陷病。免疫缺陷呈进行性发展，出生时免疫功能正常，但通常在2岁时出现T细胞缺乏，并伴有不同程度的B细胞功能异常。PNP缺乏症唯一的治愈性治疗方法是造血干细胞移植。在此，我们报告一名13岁迟发性PNP缺乏症女孩。尽管存在许多感染并发症，但她通过来自人类白细胞抗原（HLA）匹配的无关供体的减低剂量预处理方案成功接受了移植。
