Background: Common variable immunodeficiency (CVID) is a primary immunodeficiency disease, the hallmark of which is hypogammaglobulinemia and poor specific antibody responses. Patients usually have recurrent bacterial infections, but there are a number of other comorbid disorders, including autoimmune disease and neoplasms. Most patients are diagnosed as adults, and delay in identifying the antibody defect is common. In the present report, we illustrate atypical initial presentation without infections in CVID.
Clinical observation: In 5 out of 30 patients with CVID (16.6 %) diagnosed in our hospital in the Autonomous Community of Madrid, the first manifestation of immunodeficiency was not an infection. Three patients presented with immune cytopenias (thrombocytopenic purpura [n = 2] and hemolytic anemia [n = 1]); one patient had pernicious anemia and one patient had insulin-dependent diabetes as the first clinical feature of CVID. Four patients had IgG levels below 400 mg/dl.
Conclusions: Atypical presentations of CVID must be recognized to prevent delayed diagnosis. Presentation of CVID as an autoimmune disease in the absence of recurrent infections prompts us to suggest baseline testing of immunoglobulin levels in patients presenting with autoimmune disorders.