title: Immunodeficiency and autoimmune phenomena in female hyper-IgM syndrome.
abstract: We report an unusual case that highlights the clinical problems associated with autoimmune phenomena. A female (born 1972) was referred to our hospital with systemic lupus erythematosus (SLE) diagnosis. During the follow-up (7 years), we observed the appearance and the disappearance of a lot of autoantibodies detected. The history of recurrent bacterial sinopulmonary infections since puberty and enlargement of lymphonodes, elevated IgM, very low IgA and normal IgG levels, and the variable autoantibody profile oriented toward a "defective Ig class switch recombination" disorder: the hyper-IgM syndrome. Immunodeficiency and autoimmune phenomena may occur concomitantly in the same individual and sometimes the differential diagnosis is difficult.
authors.affiliation: Laboratorio Analisi Chimico Cliniche Azienda Ospedaliera Universitaria, Policlinico di Modena, Italy. melegari.alessandra@policlinico.mo.it
authors.forename: Alessandra
authors.initials: A
authors.lastname: Melegari
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Mascia
authors.forename: Gilda
authors.initials: G
authors.lastname: Sandri
authors.forename: Anna
authors.initials: A
authors.lastname: Carbonieri
mesh_terms: D000906:Antibodies / Q000276:immunology; D000941:Antigens / Q000276:immunology; D001183:Arthus Reaction / Q000097:blood / Q000276:immunology / Q000473:pathology; D015551:Autoimmunity / Q000276:immunology*; D005260:Female; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000097:blood / Q000175:diagnosis / Q000276:immunology*