Disease
CYBC1 associated chronic granulomatous disease1, 2
Gene
CYBC1
| Inheritance | AR |
|---|---|
| Current Treatments | Bone marrow transplant (hematopoietic stem cell transplantation (HSCT)) |
| Evidence for Treatment | guideline3, 4 |
| Non-Molecular Testing Availability | yes |
| Non-Molecular Test | dihydrorhodamine assay1 |
| Genes Included in Disease Frequency | CYBB, CYBA, NCF1, NCF2, NCF4, CYBC1 |
| Experimental / Investigational Therapies | https://clinicaltrials.gov/ct2/results?cond=Chronic+Granulomatous+Disease&term=&cntry=&state=&city=&dist= |
References
- 1 https://www.ncbi.nlm.nih.gov/pubmed/30361506
- 2 https://pubmed.ncbi.nlm.nih.gov/32524254/
- 3 https://cgdsociety.org/wp-content/uploads/2019/05/CGDS-Medical-Guide.pdf
- 4 https://pubmed.ncbi.nlm.nih.gov/27178966/
- 5 https://www.ncbi.nlm.nih.gov/pubmed/18410635
- 6 https://www.ncbi.nlm.nih.gov/books/NBK99496/#cgd.Summary
Last Updated: March 5, 2026