Pulmonary complications of primary immunodeficiencies.
Pulmonary complications of primary immunodeficiencies.
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DOI：
10.1016/s1526-0542(04)90043-7
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发表时间：
2004-01-01
影响因子：
5.8
通讯作者：
Buckley, Rebecca H
中科院分区：
文献类型：
--
作者：
Buckley, Rebecca H
自奥格登布鲁顿发现无丙种球蛋白血症以来的50年里，又有100多种免疫缺陷综合征被描述。这些疾病可能涉及免疫系统的一种或多种组分，包括T、B和NK淋巴细胞;吞噬细胞;和补体蛋白。大多数是隐性性状，其中一些是由X染色体上的基因突变引起的，另一些是由常染色体上的基因突变引起的。直到过去十年，人们对大多数这些疾病背后的根本问题几乎没有深入了解。许多原发性免疫缺陷疾病现在已经被定位到特定的染色体位置，并且已经在30多个中确定了基本的生物学错误。在过去的十年中，已经报道了7种X-连锁免疫缺陷疾病的分子基础：X-连锁免疫缺陷伴高IgM、X-连锁淋巴组织增生性疾病、X-连锁无丙种球蛋白血症、X-连锁严重联合免疫缺陷、Wiskott-Aldrich综合征、核因子κ B必需调节剂（NEMO或IKKg）和免疫失调性多内分泌病（IPEX）综合征。X连锁慢性肉芽肿病（CGD）和备解素缺乏症的异常基因早在几年前就被发现。此外，现在已经发现了许多常染色体隐性免疫缺陷的分子基础。这些新的进展将进行审查，特别强调这些疾病的肺部并发症。在某些情况下，在特定的缺陷中存在肺异常的独特特征。感染显然是大多数并发症的原因，但宿主对感染的反应往往会导致有助于诊断的特征性发现。最后，还将介绍基础疾病及其感染性并发症的治疗进展。
In the fifty years since Ogden Bruton discovered agammaglobulinemia, more than 100 additional immunodeficiency syndromes have been described. These disorders may involve one or more components of the immune system, including T, B, and NK lymphocytes; phagocytic cells; and complement proteins. Most are recessive traits, some of which are caused by mutations in genes on the X chromosome, others in genes on autosomal chromosomes. Until the past decade, there was little insight into the fundamental problems underlying a majority of these conditions. Many of the primary immunodeficiency diseases have now been mapped to specific chromosomal locations, and the fundamental biologic errors have been identified in more than 3 dozen. Within the past decade the molecular bases of 7 X-linked immunodeficiency disorders have been reported: X-linked immunodeficiency with Hyper IgM, X-linked lymphoproliferative disease, X-linked agammaglobulinemia, X-linked severe combined immunodeficiency, the Wiskott-Aldrich syndrome, nuclear factor kappaB essential modulator (NEMO or IKKg), and the immune dysregulation polyendocrinopathy (IPEX) syndrome. The abnormal genes in X-linked chronic granulomatous disease (CGD) and properdin deficiency had been identified several years earlier. In addition, there are now many autosomal recessive immunodeficiencies for which the molecular bases have been discovered. These new advances will be reviewed, with particular emphasis on the pulmonary complications of some of these diseases. In some cases there are unique features of lung abnormalities in specific defects. Infections obviously account for most of these complications, but the host reaction to infection often leads to characteristic findings that can be helpful diagnostically. Finally, advances in treatment of the underlying diseases as well as their infectious complications will be covered.