Smith K J, Skelton H
Department of Dermatology and Pathology, National Naval Medical Center, Bethesda, MD 20889-5600, USA.
Br J Dermatol. 2001 Mar;144(3):597-600. doi: 10.1046/j.1365-2133.2001.04092.x.
Common variable immunodeficiency (CVI) is characterized by a failure in B-cell differentiation and impaired immunoglobulin secretion, but with a variable clinical presentation, including the development of sarcoidal granulomas and autoimmune diseases, as well as an increased incidence of malignancies. We present a 21-year-old white man who carried a diagnosis of juvenile rheumatoid arthritis and presented 6 years later with scarring alopecia showing sarcoidal granulomas. Further work confirmed the diagnosis of CVI, and with increasing systemic symptoms, it was elected to treat the patient with a tumour necrosis factor (TNF)-alpha antagonist, a TNF-alpha receptor IgG1 fusion protein. The patient showed improvement in his systemic symptoms and some hair regrowth after 3 months of therapy, and continued improvement in his systemic disease with only mild scalp hair thinning in the areas of prior involvement after almost 1 year of therapy. CVI and sarcoid may have overlapping clinical and immunological findings. Previous therapies for CVI, including intravenous immunoglobulin, have not altered the mortality of the disease. TNF-alpha is a primary cytokine and is elevated in CVI, and specific inhibition of TNF-alpha in this patient was effective in moderating his disease, including his skin disease.
普通可变免疫缺陷（CVI）的特征是B细胞分化失败和免疫球蛋白分泌受损，但其临床表现多样，包括结节病性肉芽肿和自身免疫性疾病的发生，以及恶性肿瘤发病率增加。我们报告一名21岁白人男性，他曾被诊断为幼年类风湿关节炎，6年后出现瘢痕性脱发并伴有结节病性肉芽肿。进一步检查确诊为CVI，随着全身症状加重，决定用肿瘤坏死因子（TNF）-α拮抗剂（一种TNF-α受体IgG1融合蛋白）治疗该患者。治疗3个月后，患者全身症状改善，部分毛发再生，治疗近1年后，全身疾病持续改善，仅先前受累部位头皮毛发轻度稀疏。CVI和结节病可能有重叠的临床和免疫学表现。先前用于治疗CVI的方法，包括静脉注射免疫球蛋白，并未改变该病的死亡率。TNF-α是一种主要细胞因子，在CVI中升高，对该患者特异性抑制TNF-α有效地缓解了他的疾病，包括皮肤病。
