原发性免疫缺陷病的诊断与治疗进展

原发性免疫缺陷病(PID)是一类主要以单基因遗传为主的少见免疫缺陷疾病,2007年发表的新版PID分类纳入了一些以免疫失衡和自身炎性反应为主要表现的PID。其诊断除仍应强调临床和免疫功能初步筛查外,部分疾病的分子诊断、快速诊断和功能学诊断也有了较大进展。近半数PID需免疫重建治疗,规范合理的开展造血干细胞移植是挽救患儿生命的关键。现就PID的诊断治疗进展作简要介绍。     

伴甲状旁腺功能低下的原发性免疫缺陷病1例

患儿，男，13岁。以反复抽搐5d为主诉入院。患儿5d前无诱因抽搐，为大发作形式，持续1min自行缓解。此后同种性质抽搐发作3次。入院前4d发热，咳嗽，自服退热药2d热退。入院前1d左下肢频繁无规律抽动，无力，行走困难。患儿3．5岁患重症肺炎住院2次，6岁因化脓性心包炎住院治愈。8岁因特发性关节炎住院。9岁因左膝关节滑膜炎院住骨科抽液。否认肝炎结核病史。否认输血史。家族史：有一兄因肺炎发展为败血症3岁死亡，     

结缔组织病的常见血液学表现

结缔组织病(connective tissue diseases,CTD)又称风湿病(rheumatism),在小儿中常见有系统性红斑狼疮(SLE)、幼年型类风湿关节炎(JRA)、风湿热(rheumatic fever)、幼年强直性脊柱炎(juvenile ankylosing spondylitis)、皮肌炎(dermatomyosi-tis)、混合性结缔组织病(mixed conne     

原发性免疫缺陷病新进展

原发性免疫缺陷病(PID)是一组严重威胁儿童健康的疾病,近年来国外发达国家对该病非常重视,许多国家均完善其登记制度,并深入研究疾病的临床特征和发病机制,分类也随之更细致,一大批新的诊疗技术和预防策略也蕴育而生,PID也已从单纯的医学问题转变成为需要各界共同关注的公共健康和社会问题。     

原发性免疫缺陷病分类

原发性免疫缺陷病(PIDs)作为一种相对少见疾病,为研究免疫系统功能提供了很好的机会。20世纪60年代末,通过对这类疾病的相关感染和遗传学的研究,将免疫系统分为体液和细胞免疫2个部分,同时也对这类疾病的诊断和治疗提出了挑战。从1970年开始,世界卫生组织(WHO)召集了一个委员会对已知PIDs进行了统一命名。此后,在国际免疫学会联合会(IUIS)的倡导下,一个由专家组成的国际委员会每2~3 a召开会议更新PIDs的分类。在过去15 a中,已有120种以上的PIDs分子学发病基础得到阐明。上述国际委员会最近一次会议于2005年6月在匈牙利布达佩斯召开,为期2.5 d。这次会议对PIDs的分类进行了进一步更新,加入了一些新的疾病,并对原有一些PIDs(尤其是免疫球蛋白类别转换缺陷的类型,以前称为高IgM综合征)的命名进行了修改。     

原发性免疫缺陷病与肺部疾病

原发性免疫缺陷病是一组先天遗传性疾病,是免疫系统的免疫器官、免疫活性细胞(如淋巴细胞、吞噬细胞)及免疫活性分子(免疫球蛋白、淋巴因子、补体和细胞膜表面分子)发生缺陷引起的某种免疫反应缺失或降低,导致机体防御能力普遍或部分下降的一组临床综合征。其在肺部的临床表现复杂多变,最常见的是感染,其次是良性淋巴组织增殖综合征和恶性肿瘤,肺水肿、肺栓塞、药物相关疾病和移植相关肺部疾病比较少见。临床上一些反复发作的罕见致病微生物感染所致重症肺炎、肺脓肿和罕见非感染性肺间质肺炎,在排除继发性免疫功能低下后,应进行原发性免疫缺陷病筛查,以早期诊断和治疗。     

History of Primary Immunodeficiency Diseases in Iran

Pediatric immunology came into sight in the second half of 20^th century, when pediatricians and basic immunologists began to give attention to diagnosis and treatment of children with primary immunodeficiency diseases (PIDs). Understanding the genetic and mechanistic basis of PIDs provides unique insight into the functioning of the immune system. By progress in basic and clinical immunology, many infrastructural organizations and academic centers have been established in many countries worldwide to focus on training and research on the immune system and related disorders. Along with progress in basic and clinical immunology in the world, pediatric immunology had a good progress in Iran during the last 33-year period. Now, patients with PIDs can benefit from multidisciplinary comprehensive care, which is provided by clinical immunologists in collaboration with other specialists. Patients with history of recurrent and/or chronic infections suggestive of PIDs are evaluated by standard and research-based testing and receive appropriate treatment. The progress in PIDs can be described in three periods. Development of training program for clinical fellowship in allergy and immunology, multidisciplinary and international collaborative projects, primary immunodeficiency diseases textbooks, meetings on immunodeficiency disorders, improvement in diagnosis and treatment, and construction of Iranian primary immunodeficiency association, Students'' research group for immunodeficiencies, Iranian primary immunodeficiency registry, and the immunological societies and centers were the main activities on PIDs during these years. In this article, we review the growth of modern pediatric immunology and PIDs status in Iran.     

原发性免疫缺陷病与自身免疫现象

在风湿性疾病谱中,复杂自身免疫性及重叠的自身免疫现象始终是对临床医师的挑战。而原发性免疫缺陷病(PID)在婴幼儿至学龄期发病现象,有些是已知的,但多数是未知的免疫缺陷环节,特别是与主基因相辅的、构成表观遗传修饰的相关基因多态性导致临床多样性中,又以自身免疫现象最突出。本文将就此作介绍,供临床医师参考。     

Primary Immunodeficiency Diseases and Epstein-Barr Virus-induced Lymphoproliferative Disorders

Increased incidence of malignant disorders is noted in patients with both primary and acquired immunodeficiency diseases. The pathogenetic mechanism(s) for these disorders remain unclear. Defective immunosurveillance of these patients, however, is mainly postulated to be responsible for the increased risk of these malignant disorders. Of the malignant disorders, Epstein-Barr virus (EBV)-induced lymphoproliferative disorders (LPD) have been increasingly reported, possibly due to improved therapeutic management techniques such as bone marrow transplantation, which results in prolonged survival periods for the primary immunodeficiency; the dramatic development of immunosuppressive treatments for transplant recipients; and the growing numbers of acquired immunodeficiency syndrome (AIDS) patients.
This review focuses on the primary immunodeficiency diseases and EBV-induced LPD, and discusses pathogenetic mechanism(s) for the increased incidence of these malignant disorders.     

原发性免疫缺陷病诊治进展

原发性免疫缺陷病(primary immunodeficiency disease,PID)是遗传因素致免疫细胞或免疫分子缺陷引起免疫反应缺如或降低,导致机体抗感染免疫功能低下的一组疾病。目前已确定120多种PID,涉及100多个基因突变。WHO PID专家委员会指导、建立的人类免疫缺陷基因突变数据库资料显示,     

流式细胞术诊断原发性免疫缺陷病研究进展

原发性免疫缺陷病（primary immunodeficiency diseases，PID）是一组少见和异质性的综合征，主要是由免疫细胞分化、成熟以及免疫功能异常而造成免疫系统一个或几个组分的缺陷而引起的，患者易发生反复性感染、过敏、肿瘤和自身免疫性疾病等。以往的诊断在很大程度上依赖于基因序列分析，但因其应用较为昂贵且在大多数检测机构尚未开展而受到制约。近年来，随着人们对PID发病机制的逐渐了解，流式细胞术已成为诊断该类疾病较为迅速、准确和普及的方法。