Non-infectious Lung Disease in Patients with Adenosine Deaminase Deficient Severe Combined Immunodeficiency
Non-infectious Lung Disease in Patients with Adenosine Deaminase Deficient Severe Combined Immunodeficiency
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DOI：
10.1007/s10875-012-9658-3
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发表时间：
2012-06-01
影响因子：
9.1
通讯作者：
Gaspar, H. B.
中科院分区：
文献类型：
--
作者：
Booth, C.;Algar, V. E.;Gaspar, H. B.
腺苷脱氨酶缺乏症是一种嘌呤代谢紊乱，表现为严重的联合免疫缺陷（ADA-SCID）和全身异常。底物脱氧腺苷三磷酸（dATP）水平升高导致免疫缺陷，并与肺功能不全小鼠模型相关。我们比较了一组ADA-SCID和x连锁SCID患者，发现尽管放射学和呼吸学结果相似，但ADA-SCID患者中微生物学阳性的频率明显较低
Adenosine deaminase deficiency is a disorder of purine metabolism manifesting severe combined immunodeficiency (ADA-SCID) and systemic abnormalities. Increased levels of the substrate deoxyadenosine triphosphate (dATP) lead to immunodeficiency and are associated in a murine model with pulmonary insufficiency. We compared a cohort of patients with ADA-SCID and X-linked SCID and found that despite similar radiological and respiratory findings, positive microbiology is significantly less frequent in ADA-SCID patients (p