Different clinical phenotypes in common variable immunodeficiency.

Abstract

Summary: Background. We aimed to describe the clinical heterogeneity (infectious and noninfectious manifestations) and the impact of immunoglobulin replacement therapy on the reduction of infections in patients given a diagnosis of common variable immunodeficiency. Methods. This was a descriptive case series study. Medical charts were retrospectively reviewed based on demographics, clinical presentation, immunoglobulin replacement therapy and laboratory findings at diagnosis. Results. Thirty six common variable immunodeficiency patients were enrolled. Nineteen of them were male (53%). The median age at onset of symptoms was 8 years and at common variable immunodeficiency diagnosis was 19 years. Family history for immunodeficiency was observed in 2 patients (5%). Recurrent infections were present in 35 patients (97%) and they were the first clinical manifestations in 31 patients (86%). Respiratory infections were the most frequent, followed by gastrointestinal infections. Noninfectious manifestations were present in 32 patients (89%), including bronchopulmonary disease, allergy, autoimmunity, lymphoproliferation, gastrointestinal disorders and malignancy. Chronic pulmonary disease and lymphoproliferation were the most common. There was an important reduction of infections 1 year after begining immunoglobulin replacement therapy, mainly pneumonia and sinusitis. Conclusions. Although the diagnosis of common variable immunodeficiency has improved over the last decade, many patients are still being referred and diagnosed late. Physicians must recognize that both infectious and noninfectious manifestations can be the initial signs of common variable immunodeficiency and are very common in these patients. Immunoglobulin replacement therapy significantly reduces respiratory infections.