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Rheumatologic manifestations in an X-Linked chronic granulomatous disease carrier
K Quinn Hudson1, Catherine Barker2, J C Oates1
1Medical University of South Carolina, Department of Medicine, Charleston SC, USA.
The American Journal of the Medical Sciences
|July 25, 2025
Summary
X-linked chronic granulomatous disease (XL-CGD) carriers can experience significant clinical symptoms, including autoimmune and inflammatory conditions. This case highlights the importance of recognizing these manifestations in XL-CGD carriers with skewed Lyonization.
Area of Science:
- Immunology
- Genetics
- Rheumatology
Background:
- Chronic granulomatous disease (CGD) is an immunodeficiency disorder stemming from a defective nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex.
- X-linked CGD (XL-CGD) carriers were traditionally considered asymptomatic carriers.
- Emerging evidence indicates that XL-CGD carriers can present with significant clinical phenotypes.
Purpose of the Study:
- To describe the rheumatologic manifestations in a female XL-CGD carrier.
- To highlight the potential for autoimmune and inflammatory phenomena in XL-CGD carriers.
- To underscore the complexities in managing these manifestations.
Main Methods:
- Case report presentation.
- Review of clinical and rheumatologic findings.
- Discussion of skewed Lyonization in the context of XL-CGD carrier state.
Main Results:
- The case details a female XL-CGD carrier exhibiting various rheumatologic symptoms.
- Skewed Lyonization was observed in the carrier.
- The findings suggest a link between the XL-CGD carrier state and autoimmune/inflammatory conditions.
Conclusions:
- XL-CGD carriers can manifest with a debilitating clinical phenotype, including rheumatologic issues.
- Skewed Lyonization may contribute to the clinical expressivity in female carriers.
- Recognition and tailored treatment strategies are crucial for managing XL-CGD carrier manifestations.
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