Published Online: June 27, 2014
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency of innate immunity. The mode of inheritance can be either X-linked or autosomal recessive. Recurrent life-threatening infections and inflammatory manifestations are the hallmark of the disease, however since the disease was first described in 1959, the associated infections have been studied more extensively than inflammation. Thanks to the considerable increase in patients' life expectancy, inflammatory manifestations have become an increasingly relevant issue.
In an article recently published in The Journal of Allergy and Clinical Immunology (JACI), Magnani and colleagues provide a comprehensive overview of the inflammatory manifestations in a large single-center cohort of patients with CGD. The authors analyzed the medical records of 98 patients treated at Necker-Enfants malades Hospital in Paris, France, over a period of more than 40 years, and registered at the French National Reference Center for Primary Immunodeficiencies (CEREDIH). The extensive data collection included patients’ genetic background, clinical manifestations, growth parameters, imaging, histological and endoscopic examinations, infectious episodes, treatments and outcome. A total of 221 inflammatory episodes were analyzed.
The authors show that inflammatory manifestations in CGD are more frequent than generally reported and can be responsible for important morbidity. Interestingly, they find that patients with X-linked CGD have twice the risk of developing inflammatory episodes compared to autosomal recessive patients. The most commonly affected organs are the gastrointestinal tract, followed by the lungs, the urogenital tract, the eyes, other inflammation sites (the skin, central nervous system and tympanum), and autoimmune manifestations (lupus, arthritis, etc.).
The authors’ findings suggest that patients with CGD are at risk for inflammatory episodes and show for the first time that this risk is two fold higher in X-linked patients. While the most commonly affected organ is the gastrointestinal tract, other sites can be involved—making the management of patients with CGD a complex, multidisciplinary task.
The Journal of Allergy and Clinical Immunology (JACI) is an official scientific journal of the AAAAI, and is the most-cited journal in the field of allergy and clinical immunology.