The Efficacy of Long-Term Voriconazole Prophylaxis on Seven Patients with Chronic Granulomatous Disease and Review of the Literature

Objective: Chronic granulomatous disease (CGD) a primary immunodeficiency disease that affects the innate immune system, and characterized by life-threatening and/or recurrent infections caused by bacteria and fungi. Invasive fungal diseases (IFDs) are the most common causes of death among CGD patients. Itraconazole is usually used for prophylaxis in CGD patients at high risk of IFD. However, patient compliance with oral itraconazole use is low due to gastrointestinal side effects. We aim to report the efficacy of long-term voriconazole prophylaxis for IFD on our CGD patients

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Background: Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations. Objective: We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts. Methods: We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered. Results: Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years. Conclusions: An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations. (J Allergy Clin Immunol 2021;148:1332-41.