O'Donovan, Conor J. and Tan, Lay Teng and Abidin, Mohd A. Z. and Roderick, Marion R. and Grammatikos, Alexandros and Bernatoniene, Jolanta (2024) Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era. Journal of Clinical Medicine, 13 (15). p. 4435. ISSN 2077-0383, DOI https://doi.org/10.3390/jcm13154435.
Full text not available from this repository.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, underpinning current 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.
| Item Type: | Article |
|---|---|
| Funders: | National Institute for Health and Care Research (NIHR), UK (ACF-2022-25-003) |
| Uncontrolled Keywords: | inborn errors of immunity (IEI); chronic granulomatous disease (CGD); NADPH oxidase; nitroblue tetrazolium (NBT); dihydrorhodamine (DHR); genetic testing; genomic testing; screening |
| Subjects: | R Medicine > R Medicine (General) |
| Divisions: | Universiti Malaya Medical Centre (UMMC) |
| Depositing User: | Ms. Juhaida Abd Rahim |
| Date Deposited: | 07 Apr 2025 08:00 |
| Last Modified: | 07 Apr 2025 08:00 |
| URI: | http://eprints.um.edu.my/id/eprint/46740 |
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