Version 1
: Received: 17 July 2024 / Approved: 18 July 2024 / Online: 18 July 2024 (14:38:08 CEST)
How to cite:
O’Donovan, C. J.; Tan, L. T.; Abidin, M. A. Z.; Roderick, M. R.; Grammatikos, A.; Bernatoniene, J. Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era. Preprints2024, 2024071479. https://doi.org/10.20944/preprints202407.1479.v1
O’Donovan, C. J.; Tan, L. T.; Abidin, M. A. Z.; Roderick, M. R.; Grammatikos, A.; Bernatoniene, J. Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era. Preprints 2024, 2024071479. https://doi.org/10.20944/preprints202407.1479.v1
O’Donovan, C. J.; Tan, L. T.; Abidin, M. A. Z.; Roderick, M. R.; Grammatikos, A.; Bernatoniene, J. Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era. Preprints2024, 2024071479. https://doi.org/10.20944/preprints202407.1479.v1
APA Style
O’Donovan, C. J., Tan, L. T., Abidin, M. A. Z., Roderick, M. R., Grammatikos, A., & Bernatoniene, J. (2024). Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era. Preprints. https://doi.org/10.20944/preprints202407.1479.v1
Chicago/Turabian Style
O’Donovan, C. J., Alexandros Grammatikos and Jolanta Bernatoniene. 2024 "Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era" Preprints. https://doi.org/10.20944/preprints202407.1479.v1
Abstract
Chronic granulomatous disease (CGD) is a group of rare primary inborn errors of immunity characterised by a defect in the phagocyte respiratory burst, which leads to severe and life-threatening infective and inflammatory complications. Despite recent advances in our understanding of the genetic and molecular pathophysiology of X-linked and autosomal recessive CGD, and growth in the availability of functional and genetic testing, there remain significant barriers to early and accurate diagnosis. In the current review, we provide an up-to-date summary of CGD pathophysiology, which underpins methods of diagnostic testing for CGD and closely related disorders. We present an overview of the benefits of early diagnosis and when to suspect and test for CGD. We discuss current and historical methods for functional testing of NADPH oxidase activity, as well as assays for measuring protein expression of NADPH oxidase subunits. Lastly, we focus on genetic and genomic methods employed to diagnose CGD, including gene-targeted panels, comprehensive genomic testing and ancillary methods. Throughout, we highlight general limitations of testing, and caveats specific to interpretation of results in the context of CGD and related disorders, and provide an outlook for newborn screening and the future.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
