Adenosine Deaminase Deficiency - More Than Just an Immunodeficiency.
Adenosine Deaminase Deficiency - More Than Just an Immunodeficiency.
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DOI：
10.3389/fimmu.2016.00314
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发表时间：
2016
影响因子：
7.3
通讯作者：
Gaspar HB
中科院分区：
文献类型：
--
作者：
Whitmore KV;Gaspar HB
腺苷脱氨酶(ADA)缺乏症是一种严重的联合免疫缺陷(SCID)，由编码ADA的基因突变引起。受影响的患者具有典型的SCID的临床和免疫学表现。目前已有针对这些免疫紊乱的治疗方法，接受治疗的患者显示出不同程度的临床改善。然而，现在有越来越多的证据表明ADA缺乏会对非免疫器官系统产生重大影响。这篇综述将概述ADA缺乏对各种器官系统的影响，从众所周知的免疫异常开始。我们将讨论可能的致病机制，并强调当前治疗方法可以改进的方法。在这样做的时候，我们的目标是将ADA缺乏不仅仅是一种免疫缺陷，并建议它应该被认识为一种影响多器官系统的全身性代谢紊乱。只有充分了解ADA缺乏及其在所有器官系统中的表现，我们才能致力于提供纠正所有临床后果的治疗方法。
Adenosine deaminase (ADA) deficiency is best known as a form of severe combined immunodeficiency (SCID) that results from mutations in the gene encoding ADA. Affected patients present with clinical and immunological manifestations typical of a SCID. Therapies are currently available that can target these immunological disturbances and treated patients show varying degrees of clinical improvement. However, there is now a growing body of evidence that deficiency of ADA has significant impact on non-immunological organ systems. This review will outline the impact of ADA deficiency on various organ systems, starting with the well-understood immunological abnormalities. We will discuss possible pathogenic mechanisms and also highlight ways in which current treatments could be improved. In doing so, we aim to present ADA deficiency as more than an immunodeficiency and suggest that it should be recognized as a systemic metabolic disorder that affects multiple organ systems. Only by fully understanding ADA deficiency and its manifestations in all organ systems can we aim to deliver therapies that will correct all the clinical consequences.