Chronic granulomatous disease

Abstract

Introduction: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by recurrent, life-threatening bacterial and fungal infections of the skin, the airways, the lymph nodes, the liver, the brain and the bones. Frequently found pathogens are Staphylococcus aureus, Aspergillus species, Klebsiella species, Burkholderia cepacia, Serratia marcescens and Salmonella species.

Sources of data: CGD is a rare (∼1:250 000 individuals) disease caused by mutations in any one of the five components of the NADPH oxidase in phagocytic leucocytes. This enzyme generates superoxide and is essential for intracellular killing of pathogens by phagocytes.

Areas of agreement: CGD patients suffer not only from life-threatening infections, but also from excessive inflammatory reactions.

Areas of controversy: Neither the cause of these inflammatory reactions nor the way to treat them is clear.

Areas timely for developing research: Patient selection for and timing of bone marrow transplantation along with gene therapy.

Keywords: IL-1β; NADPH oxidase; autophagy; autoreactive T cells; chronic granulomatous disease; hyperinflammation.