Hyper-IgM Syndrome with Congenital Rubella

Abstract

Immunodeficiency with hyper-IgM was first described in 1961. It is characterized by a normal or elevated polyclonal IgM level with absence of IgG, IgA, and IgE levels. We evaluated a 28-year-old woman with recurrent left lower lobe pneumonia. She presented with a fever of 105°F, a left lower lobe infiltrate, and lymphadenopathy. She had a history of congenital rubella, chronic sinusitis, and immune thrombocytopenia, which required splenectomy. There was no cutaneous anergy. Leukocytosis was present with a left shift, and IgM was markedly elevated at 1,000 mg/dl, with extremely low levels of IgG, IgA, and IgE. Circulating levels of interleukin-10 were detected. She responded well to cephalosporin antibiotics and was subsequently started on intravenous immunoglobulin after the determination of absent anti-IgA antibodies. She is currently doing well without recurrent infections. Immunodeficiency with the hyper-IgM syndrome and therapies are discussed.