Discoid lupus erythematosus associated with a primary immunodeficiency syndrome showing features of non-X-linked hyper-IgM syndrome.

Hyper-IgM (HIM) syndrome is a rare primary immunodeficiency disorder. Approximately 120 cases have been described in the literature world-wide. Features of HIM include low serum IgG, a very low IgA with normal or high IgM levels. Autoimmune phenomena are recognized associations but connective tissue disorders have so far not been described in HIM patients. We report the case of a 19-year-old Indian woman with an immunodeficiency syndrome characteristic of non-X-linked HIM who developed discoid lupus erythematosus. Anti-double-stranded DNA antibodies were negative. Antibodies to extractable nuclear antigens were positive for Ro and nRNP, with evidence that they were of both IgG and IgM class. Treatment with hydroxychloroquine and topical steroids was successful.