常见可变免疫缺陷(CVID)是成人中最常见的症状性免疫缺陷。它包括一组病因涉及遗传的综合征,表观遗传,微生物群,和环境因素。我们介绍了一名46岁的高加索男性患者的CVID和免疫失调表型。案件的特殊因素包括非典型的临床过程,这无疑证明了这些类型的患者可能遭受的临床表现的巨大变异性,包括细菌和病毒感染,自身免疫现象,和瘤形成。值得注意的是,患者反复出现胃肠道感染,伴有大环内酯耐药的空肠弯曲杆菌,以及胃十二指肠疾病和巨细胞病毒(CMV)引起的病毒血症.此外,CMV被认为是促进早发性肠型胃腺癌发展的主要致癌因素,患者接受了胃切除术。病人的进化是困难的,但最后,作为多学科方法的结果,实现了临床稳定和生活质量改善.根据我们简短的文献综述,这是该临床复杂性的首例报道.我们的经验可以帮助管理未来的CVID患者,也可能更新当前的CVID流行病学数据。
Common variable immunodeficiency (CVID) is the most common symptomatic immunodeficiency in adults. It comprises a group of syndromes whose etiology involves genetic, epigenetic, microbiota, and environmental factors. We present the case of a 46-year-old Caucasian male patient with CVID and an immune dysregulation phenotype. The particular elements of the case consisted of an atypical clinical course, which undoubtedly demonstrates the great variability of clinical manifestations that these types of patients can suffer from, including bacterial and viral infections, autoimmune phenomena, and neoplasia. Notably, the patient suffered from recurrent gastrointestinal infection with macrolide-resistant Campylobacter jejuni and gastroduodenal disease and viraemia by
cytomegalovirus (CMV). In addition, CMV was postulated as the main pro-oncogenic factor contributing to the development of early-onset intestinal-type gastric adenocarcinoma, for which the patient underwent gastrectomy. The patient\'s evolution was difficult, but finally, as a result of the multidisciplinary approach, clinical stabilization and improvement in his quality of life were achieved. Based on our brief literature review, this is the first reported case of this clinical complexity. Our experience could help with the management of future patients with CVID and may also update current epidemiological data on CVID.