AI Article Synopsis
- Chronic granulomatous disease (CGD) is an inherited immunodeficiency caused by faulty NADPH in leukocytes, leading to frequent infections and inflammation.
- The condition is mainly due to mutations in the CYBB gene, predominantly affecting males, but females can also show symptoms based on their X-inactivation patterns.
- A case study highlights a 67-year-old asymptomatic female carrier diagnosed with CGD after developing a rare fungal skin infection, revealing the importance of monitoring carriers for late onset diseases.
Article Abstract
Chronic granulomatous disease (CGD) is an inherited immunodeficiency due to defective leukocyte NADPH responsible for recurrent infections and aberrant inflammation. Mutations in the CYBB gene are responsible for the X-linked CGD and account for approximately 70% of the cases. CGD is diagnosed during childhood in males. Female carriers may have biased X-inactivation and may present with clinical manifestations depending on the level of residual NADPH oxidase activity. We report the case of a previously asymptomatic female carrier who was diagnosed at age 67 with a skin infection with the rare fungus Paecilomyces lilacinus as the first manifestation of CGD. Dihydrorhodamine 123 (DHR) activity was below 10%. Next-generation sequencing (NGS) revealed mutations in DNMT3A, ASXL1, and STAG2 suggesting that clonal hematopoiesis could be responsible for a progressive loss of NADPH oxidase activity and the late onset of X-linked CGD in this patient. Long-term follow-up of asymptomatic carrier women seems to be essential after 50 years old.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821496 | PMC |
| http://dx.doi.org/10.1007/s10875-021-01140-1 | DOI Listing |
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