Overview
Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by defects in phagocyte NADPH oxidase, leading to impaired killing of certain pathogens 1. This results in recurrent, severe infections and inflammatory conditions, most commonly granuloma formation 1.Diagnosis
Diagnosis is suspected in patients with a history of recurrent, severe bacterial and fungal infections, particularly those caused by catalase-positive organisms 1.
Key diagnostic tests include the dihydrorhodamine (DHR) assay, which measures the oxidative burst capacity of phagocytes 1.
Genetic testing can identify the specific gene mutation responsible for the CGD type 1.Management
Prophylactic antibiotics and antifungals are crucial for preventing infections 1.
Interferon-gamma (IFN-γ) therapy is a cornerstone of management, reducing the frequency and severity of infections 1.
Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative option for eligible patients 1.
Management of inflammatory complications, such as granulomas, may require immunosuppressive agents 1.Special Populations
Pediatric patients are particularly susceptible to severe infections and require vigilant monitoring and prompt treatment 1.Key Recommendations
Initiate prophylactic antibiotics and antifungals to prevent infections in patients with CGD 1. (Evidence: Strong)
Administer interferon-gamma (IFN-γ) therapy to reduce the frequency and severity of infections 1. (Evidence: Strong)
Consider allogeneic hematopoietic stem cell transplantation (HSCT) as a potentially curative treatment option for eligible patients 1. (Evidence: Moderate)References
1 Cui Q, Dou J, Wang F, Jia K. Cell-type specificity of Tim-3 in respiratory diseases: from mechanisms to clinical translation. Frontiers in immunology 2026. link