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Chronic Granulomatous Disease: a Comprehensive Review
Hsin-Hui Yu1, Yao-Hsu Yang1, Bor-Luen Chiang2
1Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan.
Clinical Reviews in Allergy & Immunology
|June 12, 2020
Summary
Chronic granulomatous disease (CGD) is an immunodeficiency affecting phagocyte function. Advances in treatment, including prophylaxis and stem cell transplantation, have significantly improved survival rates for CGD patients.
Area of Science:
- Immunology
- Genetics
- Hematology
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by defective NADPH oxidase (phox) in phagocytes.
- NCF4/p40phox deficiency represents a mild, atypical CGD form, distinct from common CYBB/gp91phox, NCF1/p47phox, and CYBA/p22phox deficiencies.
- CYBC1/Eros deficiency is a rare CGD form presenting with loss of respiratory burst and gp91phox expression.
Purpose of the Study:
- To summarize the clinical manifestations, diagnostic approaches, and therapeutic strategies for Chronic Granulomatous Disease (CGD).
- To highlight recent advancements in managing CGD-related inflammatory conditions and improving patient survival.
- To explore emerging gene therapy and genome-editing technologies for treating CGD.
Main Methods:
- Diagnosis of atypical CGD forms like NCF4/p40phox deficiency using serum-opsonized E.coli in dihydrorhodamine (DHR) assay.
- Assessment of neutrophil extracellular traps (NETosis), autophagy, and apoptosis in CGD phagocytes.
- Evaluation of therapeutic outcomes for antimicrobial, anti-fungal, and interferon-γ prophylaxis, hematopoietic stem cell transplantation (HSCT), and gene therapy.
Main Results:
- CGD phagocytes exhibit hyper-activated NF-ĸB and inflammasome, leading to pro-inflammatory cytokine production and manifestations like granulomas and colitis.
- Patients with CGD and X-linked female carriers have an increased incidence of autoimmune diseases.
- Residual NADPH oxidase activity correlates with disease severity and survival; HSCT offers curative treatment with >84-90% survival.
Conclusions:
- Prophylaxis and HSCT have significantly improved CGD patient survival, with ongoing research into optimal conditioning regimens.
- Immunomodulators are being investigated for CGD-related inflammation, and gene therapy shows promise for X-linked CGD.
- Gene editing technologies like CRISPR/Cas9 offer a potential future therapeutic avenue for CGD.
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