PDF(Pubmed)
Abstract：
Zeta associated protein (ZAP) 70 deficiency is a rare disease. ZAP70 deficiency results in an autosomal recessive form of severe combined immunodeficiency (SCID) that is characterized by a selective absence of CD8 T cells. The diagnosis should be suspected in patients presenting with a severe combined immunodeficiency phenotype and selective deficiency of CD8 T cells. Sequencing of the ZAP70 gene can confirm the diagnosis. We wanted to emphasize that immunodeficiencies should also be remembered in the differential diagnosis by presenting a 5-month-old patient who applied to our clinic with complaints of skin rash and cough, was given respiratory support with mechanical ventilation for a long time, and was diagnosed with ZAP70 deficiency.
摘要：
Zeta相干卵白(ZAP)70缺乏是一种罕见病。ZAP70缺乏导致严重联合免疫缺陷(SCID)的常染色体隐性形式,其特征在于CD8T细胞的选择性缺失。患有严重联合免疫缺陷表型和CD8T细胞选择性缺陷的患者应怀疑诊断。ZAP70基因的测序可以确认诊断。我们想强调的是，在鉴别诊断中也应该记住免疫缺陷，向一位5个月大的患者介绍他申请我们的诊所，抱怨皮疹和咳嗽，长时间给予机械通气的呼吸支持，并被诊断为ZAP70缺乏症。
