Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features
Zacharoula Oikonomopoulou1, Stanford Shulman1,2, Marilyn Mets1,3
1Division of Infectious Diseases, Ann & Robert H Lurie Children's Hospital of Chicago, 225 E Chicago Ave., Box 20, Chicago, IL, 60611, USA.
Chronic granulomatous disease (CGD) is a rare immune disorder. This study updates US experience with CGD, noting a reduced infection rate and newly recognized features like unusual infections and autoimmune issues.
Area of Science:
- Immunology
- Genetics
- Infectious Diseases
Background:
- Chronic granulomatous disease (CGD) is an uncommon, inherited immune deficiency.
- Understanding its clinical spectrum and management is crucial for patient outcomes.
Purpose of the Study:
- To update a large, single-center US experience with CGD.
- To identify and describe newly recognized features of the disease.
Main Methods:
- Retrospective review of 26 CGD patients from November 2013 to December 2019.
- Analysis of infectious agents, serious infection rates, and clinical manifestations.
Main Results:
- Reduced serious infection rate (0.2/patient-year) compared to previous periods.
- Identified unusual infections (e.g., Pneumocystis pneumonia, basidiomycete pneumonia) and autoimmune manifestations (e.g., retinitis pigmentosa).
- Two of four evaluated patients successfully underwent stem cell transplantation with no deaths.
Conclusions:
- This update highlights a decreased infection burden in CGD patients.
- Newly recognized features expand the understanding of CGD's diverse clinical presentation.
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