Sarcoidosis and common variable immunodeficiency - A case of a malignant course of sarcoidosis in conjunction with severe impairment of the cellular and humoral immune system

The occurrence of sarcoidosis in combination with common variable immunodef iciency (CVID) has been described in a small number of patients. In these p atients, sarcoidosis consisted of lymphadenopathy, mild to moderate pulmona ry involvement and hepatosplenomegaly. However, severe and rapidly progress ive pulmonary fibrosis in combination with a severe defect of the cellular and humoral immune system has not been described yet, in our patient, defec ts of the T and B cell system resulted in severe immunodeficiency. The defe ct of the humoral immune system was characterized by the impairment of spec ific antibody production in vivo. In addition, hypogammaglobulinemia with m issing IgA and IgE along with a marked defect in IgM and IgG production was noted. There was a progressively reduced lymphocyte proliferation in respo nse to T cell mitogens, while proliferation after specific IL-2 stimulation was normal. A Th1 lymphocyte-subset-like profile might thus play a role in the pathogenesis and might form the connecting link between sarcoidosis an d CVID. This is the report of a so far new and unique combination of severe immunodeficiency and sarcoidosis also associated with a congenital dysmorp hia consisting of a palatal cleft. The findings of the 40 patients with CVI D and sarcoidosis reported so far are discussed in order to point out the t ypical features of patients with this uncommon syndrome. Copyright (C) 2000 S. Karger AG, Basel.