Maglione Paul J
Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1089, New York, NY, 10029, USA.
Curr Allergy Asthma Rep. 2016 Mar;16(3):19. doi: 10.1007/s11882-016-0597-6.
Common variable immunodeficiency (CVID) is frequently complicated by the development of autoimmune and lymphoproliferative diseases. With widespread use of immunoglobulin replacement therapy, autoimmune and lymphoproliferative complications have replaced infection as the major cause of morbidity and mortality in CVID patients. Certain CVID complications, such as bronchiectasis, are likely to be the result of immunodeficiency and are associated with infection susceptibility. However, other complications may result from immune dysregulation rather than immunocompromise. CVID patients develop autoimmunity, lymphoproliferation, and granulomas in association with distinct immunological abnormalities. Mutations in transmembrane activator and CAML interactor, reduction of isotype-switched memory B cells, expansion of CD21 low B cells, heightened interferon signature expression, and retained B cell function are all associated with both autoimmunity and lymphoproliferation in CVID. Further research aimed to better understand that the pathological mechanisms of these shared forms of immune dysregulation may inspire therapies beneficial for multiple CVID complications.
常见变异型免疫缺陷（CVID）常并发自身免疫性疾病和淋巴增殖性疾病。随着免疫球蛋白替代疗法的广泛应用，自身免疫性和淋巴增殖性并发症已取代感染，成为CVID患者发病和死亡的主要原因。某些CVID并发症，如支气管扩张，可能是免疫缺陷的结果，并与感染易感性相关。然而，其他并发症可能是免疫失调而非免疫功能低下所致。CVID患者会出现自身免疫、淋巴增殖和肉芽肿，并伴有明显的免疫异常。跨膜激活剂和CAML相互作用分子的突变、同种型转换记忆B细胞的减少、CD21低表达B细胞的扩增、干扰素特征表达的增强以及B细胞功能的保留，均与CVID中的自身免疫和淋巴增殖相关。旨在更好地理解这些共同形式的免疫失调病理机制的进一步研究，可能会催生对多种CVID并发症有益的治疗方法。
