Jennifer W. Leiding, Leah Pettiford, Christopher Chang, Aimee Dassner, Mary C. Dinauer, Benjamin Hanisch, Nada Harik, Elizabeth Daly Hicks, Harry L. Malech, Felicia B Morton, Peter E. Newburger, Kathleen E. Sullivan, Brant R. Ward, Michael D. Keller
Chronic granulomatous disease (CGD) is a rare inborn error of immunity with both high risk of invasive bacterial and fungal infections as well as inflammatory complications. Though diagnostic testing via the dihydrorhodamine assay is widely available, disease recognition can be challenging due to the broad range of initial clinical presentations. Preventative antimicrobial therapy is the backbone of management, while treatment of inflammatory disease remains a challenge. Definitive therapy via hematopoietic stem cell transplantation is increasingly favored for resolution of long-term disease risks, while gene therapy remains a promising but investigational treatment. Here, we present our consensus approach to diagnosis and management of CGD.