Chronic granulomatous disease (CGD)
About
CGD is caused by mutations in genes such as CYBB, CYBA, NCF1, and NCF2, resulting in defects in the NADPH oxidase complex, and phagocytes are unable to produce bactericidal reactive oxygen species. Core dilemmas: ① Repeated serious bacterial and fungal infections, especially Aspergillus infections;② Life-long preventive antibiotics and antifungal drugs are required;③ Interferon-γ can reduce infections but cannot cure them;④ Allogeneic transplantation is a cure but the risk is high.
Features & Symptoms
- NADPH oxidase deficiency
- Phagocytic germicidal dysfunction
- Repeated severe bacterial and fungal infections
- granuloma formation
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| allogeneic hematopoietic stem cell transplantation | The success rate of sib-matched donor transplantation is>90%, making it the only radical treatment at present. | 临床应用 | $300K - $800K/次 |
| gene therapy | Autologous CD34 + cells were modified with lentiviral vectors and then reinfused, and are currently in clinical trials. | Phase I/II | $500K - $1M/次（一次性） |
| Interferon-γ+ prophylactic anti-infection | Combination of recombinant interferon-γ with lifelong preventive compound trimoxazole and itraconazole can significantly reduce the incidence of infection. | FDA批准 | $100K - $250K/年 |
Prognosis
The median survival time under modern management is about 40 years
Additional Notes
Notes: Infection prevention: Lifelong preventive antibiotics (such as TMP-SMX) and antifungal drugs (such as itraconazole) are standard treatment; contraindications for live vaccines: Live vaccines such as BCG are strictly prohibited; Fungal infection monitoring: Regular monitoring of invasive fungal infections (such as Aspergillus), chest CT is an important screening method; Gene therapy evaluation: Gene therapy has made breakthroughs and can be used as an alternative to transplantation; Transplantation evaluation: Hematopoietic stem cell transplantation indications should be evaluated after severe infections are controlled.; Exclusive service commitment: The platform will allocate a dedicated medical team to each patient to assist in dismantling and properly deploying the following precautions throughout the process. When cross-state and cross-border diagnosis and treatment projects or drugs are involved, the platform will make overall arrangements for the entire docking; for disabled and semi-disabled patient groups, the platform will provide rush-free alternative solutions (including remote consultation, door-to-door sampling, direct drug delivery in the cold chain, etc.), to ensure that patients can get the same high-quality diagnosis and treatment resources without having to travel in person.; Research stage: Clinical application. Prognosis: The median survival time under modern management is about 40 years.
Frequently Asked Questions
What is Chronic granulomatous disease (CGD)?
CGD is caused by mutations in genes such as CYBB, CYBA, NCF1, and NCF2, resulting in defects in the NADPH oxidase complex, and phagocytes are unable to produce bactericidal reactive oxygen species. Core dilemmas: ① Repeated serious bacterial and fungal infections, especially Aspergillus infections;② Life-long preventive antibiotics and antifungal drugs are required;③ Interferon-γ can reduce infections but cannot cure them;④ Allogeneic transplantation is a cure but the risk is high.
What are the symptoms of Chronic granulomatous disease (CGD)?
NADPH oxidase deficiency,Phagocytic germicidal dysfunction,Repeated severe bacterial and fungal infections,granuloma formation
How is Chronic granulomatous disease (CGD) treated?
allogeneic hematopoietic stem cell transplantation: The success rate of sib-matched donor transplantation is>90%, making it the only radical treatment at present.; gene therapy: Autologous CD34 + cells were modified with lentiviral vectors and then reinfused, and are currently in clinical trials.; Interferon-γ+ prophylactic anti-infection: Combination of recombinant interferon-γ with lifelong preventive compound trimoxazole and itraconazole can significantly reduce the incidence of infection.
What is the prognosis for Chronic granulomatous disease (CGD)?
The median survival time under modern management is about 40 years