Common variable immunodeficiency treated with a recombinant human IgG, tumour necrosis factor-alpha receptor fusion protein

Common variable immunodeficiency (CVI) is characterized by a failure in B-c ell differentiation and impaired immunoglobulin secretion, but with a varia ble clinical presentation, including the development of sarcoidal granuloma s and autoimmune diseases, as well as an increased incidence of malignancie s. We present a 21-year-old white man who carried a diagnosis of juvenile r heumatoid arthritis and presented 6 years later with scarring alopecia show ing 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 an d some hair regrowth after 3 months of therapy, and continued improvement i n his systemic disease with only mild scalp hair thinning in the areas of p rior involvement after almost 1 year of therapy. CVI and sarcoid may have o verlapping clinical and immunological findings. Previous therapies for CVI, including intravenous immunoglobulin, have not altered the mortality of th e disease. TNF-alpha is a primary cytokine and is elevated in CVI, and spec ific inhibition of TNF-alpha in this patient was effective in moderating hi s disease, including his skin disease.