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The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.孟德尔式分枝杆菌病易感性的遗传异质性。
J Allergy Clin Immunol. 2008 Dec;122(6):1043-51; quiz 1052-3. doi: 10.1016/j.jaci.2008.10.037.
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Omenn syndrome: inflammation in leaky severe combined immunodeficiency.奥门综合征:渗漏型重症联合免疫缺陷中的炎症反应。
J Allergy Clin Immunol. 2008 Dec;122(6):1082-6. doi: 10.1016/j.jaci.2008.09.037. Epub 2008 Nov 6.
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Is it necessary to identify molecular defects in primary immunodeficiency disease?
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Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs.原发性免疫缺陷病的异基因造血细胞移植:现状与迫切需求
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Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency.在一名核因子-κB必需调节因子缺乏的患者中,异基因移植成功纠正了免疫缺陷,但未改善结肠炎易感性。
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Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.低表达核因子-κB必需调节子突变数据库及重组系统鉴定表型和免疫多样性。
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Omenn syndrome is associated with mutations in DNA ligase IV.欧门综合征与DNA连接酶IV的突变有关。
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10
Chronic granulomatous disease as a risk factor for autoimmune disease.慢性肉芽肿病作为自身免疫性疾病的一个危险因素。
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2008年基础与临床免疫学进展

Advances in basic and clinical immunology in 2008.

作者信息

Chinen Javier, Shearer William T

机构信息

Department of Pediatrics, Allergy and Immunology Section, Baylor College of Medicine, Houston, Tex, USA.

出版信息

J Allergy Clin Immunol. 2009 Feb;123(2):328-32. doi: 10.1016/j.jaci.2008.12.1113.

DOI:10.1016/j.jaci.2008.12.1113
PMID:19203657
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6154383/
Abstract

We reviewed selected reports in the field of basic and clinical immunology published in 2008. Research progress in the immunologic mechanisms of allergic disease included the modulation of T(H)2 responses by specific transcription factors and receptors associated with the innate immunity, underscoring the importance of the interactions between adaptive and innate immune mechanisms. Investigations of the pathophysiology of hereditary angioedema included a variety of host factors with roles in bradykinin metabolism and vasomotor activity, explaining the variable severity of the clinical presentation. The research focus in HIV infection has shifted from control of disease progression to the barriers for viral eradication, and the search for vaccine designs that provide immunity in the short window between infection and establishment of viral reservoirs. HIV-infected individuals who receive antiviral treatment develop a high incidence of asthma, resembling the inflammatory processes associated with immunoreconstitution. The correlation of molecular diagnosis and clinical presentation was analyzed in 4 relatively rare primary immunodeficiencies: hyper-IgE syndrome; immune dysfunction, polyendocrinopathy, enteropathy, X-linked disease; cartilage-hair hypoplasia; and nuclear factor-kappaB essential modulator deficiency. Studies of patients with partial DiGeorge syndrome and chronic granulomatous disease unveiled subclinical deficiencies that might have an impact in their care. Long-term outcomes from patients with severe combined immunodeficiency who received bone marrow transplants were considered successful compared with the alternative of no intervention. However, the occurrence of adverse events reinforces the need for coordinate efforts to develop optimal protocols for hematopoietic stem cell transplantation for severe immune defects.

摘要

我们回顾了2008年发表的基础与临床免疫学领域的部分报告。变应性疾病免疫机制的研究进展包括特定转录因子及与固有免疫相关的受体对辅助性T细胞2(Th2)反应的调节,这突出了适应性免疫与固有免疫机制间相互作用的重要性。遗传性血管性水肿病理生理学的研究包括多种在缓激肽代谢和血管舒缩活动中起作用的宿主因素,这解释了临床表现的严重程度为何存在差异。HIV感染的研究重点已从控制疾病进展转向病毒根除的障碍,以及寻找能在感染与病毒储存库建立之间的短窗口期提供免疫的疫苗设计。接受抗病毒治疗的HIV感染者哮喘发病率较高,类似于与免疫重建相关的炎症过程。分析了4种相对罕见的原发性免疫缺陷(高IgE综合征、免疫功能障碍伴多内分泌腺病、肠病、X连锁疾病、软骨毛发发育不全和核因子κB必需调节因子缺陷)中分子诊断与临床表现的相关性。对部分DiGeorge综合征和慢性肉芽肿病患者的研究揭示了可能影响其治疗的亚临床缺陷。与不进行干预相比,严重联合免疫缺陷患者接受骨髓移植的长期结果被认为是成功的。然而,不良事件的发生强化了为严重免疫缺陷制定最佳造血干细胞移植方案而进行协同努力的必要性。