Anna Szaflarska, Marzena Lenart, Magdalena Rutkowska-Zapała, Maciej Siedlar
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引用次数: 0
摘要
选择性 IgA 缺乏症(sIgAD)、共变异性免疫缺陷症(CVID)和婴儿一过性低丙种球蛋白血症(THI)是最常见的原发性抗体缺乏症。这些疾病最初诊断困难(尤其是在幼儿期)、发生率高以及相互发展的可能性表明,它们具有共同的细胞和分子病理机制以及相似的遗传背景。在这篇综述中,我们将讨论这三种体液免疫缺陷症的相似之处和不同之处,重点关注当前和新型的治疗方法。我们总结了免疫球蛋白替代、抗生素预防、自身免疫性疾病和其他常见并发症(如细胞减少症、胃肠道并发症和肉芽肿病)的治疗。我们讨论了新的治疗方法,如异基因干细胞移植和针对特定蛋白质的疗法,这取决于患者的基因缺陷。由于疾病变异的巨大异质性,可能的治疗模式多种多样,这意味着原发性体液免疫缺陷治疗的未来需要个性化的医学方法。
Clinical and experimental treatment of primary humoral immunodeficiencies.
Selective IgA deficiency (sIgAD), common variable immunodeficiency (CVID), and transient hypogammaglobulinemia of infancy (THI) are the most frequent forms of primary antibody deficiencies. Difficulties in initial diagnosis, especially in the early childhood, the familiar occurrence of these diseases, as well as the possibility of progression to each other suggest common cellular and molecular patomechanism and a similar genetic background. In this review, we discuss both similarities and differences of these three humoral immunodeficiencies, focusing on current and novel therapeutic approaches. We summarize immunoglobulin substitution, antibiotic prophylaxis, treatment of autoimmune diseases, and other common complications, i.e. cytopenias, gastrointestinal complications, and granulomatous disease. We discuss novel therapeutic approaches such as allogenic stem cell transplantation and therapies targeting-specific proteins, dependent on the patient's genetic defect. The diversity of possible therapeutics models results from a great heterogeneity of the disease variants, implying the need of personalized medicine approach as a future of primary humoral immunodeficiencies treatment.
期刊介绍:
Clinical & Experimental Immunology (established in 1966) is an authoritative international journal publishing high-quality research studies in translational and clinical immunology that have the potential to transform our understanding of the immunopathology of human disease and/or change clinical practice.
The journal is focused on translational and clinical immunology and is among the foremost journals in this field, attracting high-quality papers from across the world. Translation is viewed as a process of applying ideas, insights and discoveries generated through scientific studies to the treatment, prevention or diagnosis of human disease. Clinical immunology has evolved as a field to encompass the application of state-of-the-art technologies such as next-generation sequencing, metagenomics and high-dimensional phenotyping to understand mechanisms that govern the outcomes of clinical trials.