Phenomic analysis of chronic granulomatous disease reveals more severe integumentary infections in X-Linked compared with autosomal recessive chronic granulomatous disease

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dc.contributor.author Chiu, Timothy Lok-Hin
dc.contributor.author Leung, Daniel
dc.contributor.author Chan, Koon-Wing
dc.contributor.author Yeung, Hok Man
dc.contributor.author Wong, Chung-Yin
dc.contributor.author Mao, Huawei
dc.contributor.author He, Jianxin
dc.contributor.author Vignesh, Pandiarajan
dc.contributor.author Liang, Weiling
dc.contributor.author Liew, Woei Kang
dc.contributor.author Jiang, Li-Ping
dc.contributor.author Chen, Tong-Xin
dc.contributor.author Chen, Xiang-Yuan
dc.contributor.author Tao, Yin-Bo
dc.contributor.author Xu, Yong-Bin
dc.contributor.author Yu, Hsin-Hui
dc.contributor.author Terblanche, Alta J.
dc.contributor.author Lung, David Christopher
dc.contributor.author Li, Cheng-Rong
dc.contributor.author Chen, Jing
dc.contributor.author Tian, Man
dc.contributor.author Eley, Brian
dc.contributor.author Yang, Xingtian
dc.contributor.author Yang, Jing
dc.contributor.author Chiang, Wen Chin
dc.contributor.author Lee, Bee Wah
dc.contributor.author Suri, Deepti
dc.contributor.author Rawat, Amit
dc.contributor.author Gupta, Anju
dc.contributor.author Singh, Surjit
dc.contributor.author Wong, Wilfred Hing Sang
dc.contributor.author Chua, Gilbert T.
dc.contributor.author Duque, Jaime Sou Da Rosa
dc.contributor.author Cheong, Kai-Ning
dc.contributor.author Chong, Patrick Chun-Yin
dc.contributor.author Ho, Marco Hok-Kung
dc.contributor.author Lee, Tsz-Leung
dc.contributor.author Yang, Wanling
dc.contributor.author Lee, Pamela P.
dc.contributor.author Lau, Yu Lung
dc.date.accessioned 2022-07-28T12:04:07Z
dc.date.available 2022-07-28T12:04:07Z
dc.date.issued 2022-01-24
dc.description.abstract BACKGROUND : Chronic granulomatous disease (CGD) is an inborn error of immunity (IEI), characterised by recurrent bacterial and fungal infections. It is inherited either in an Xlinked (XL) or autosomal recessive (AR) mode. Phenome refers to the entire set of phenotypes expressed, and its study allows us to generate new knowledge of the disease. The objective of the study is to reveal the phenomic differences between XL and AR-CGD by using Human Phenotype Ontology (HPO) terms. METHODS : We collected data on 117 patients with genetically diagnosed CGD from Asia and Africa referred to the Asian Primary Immunodeficiency Network (APID network). Only 90 patients with sufficient clinical information were included for phenomic analysis. We used HPO terms to describe all phenotypes manifested in the patients. RESULTS : XL-CGD patients had a lower age of onset, referral, clinical diagnosis, and genetic diagnosis compared with AR-CGD patients. The integument and central nervous system were more frequently affected in XL-CGD patients. Regarding HPO terms, perianal abscess, cutaneous abscess, and elevated hepatic transaminase were correlated with XL-CGD. A higher percentage of XL-CGD patients presented with BCGitis/BCGosis as their first manifestation. Among our CGD patients, lung was the most frequently infected organ, with gastrointestinal system and skin ranking second and third, respectively. Aspergillus species, Mycobacterium bovis, and Mycobacteirum tuberculosis were the most frequent pathogens to be found. CONCLUSION : Phenomic analysis confirmed that XL-CGD patients have more recurrent and aggressive infections compared with AR-CGD patients. Various phenotypic differences listed out can be used as clinical handles to distinguish XL or AR-CGD based on clinical features. en_US
dc.description.department Paediatrics and Child Health en_US
dc.description.librarian dm2022 en_US
dc.description.sponsorship The Society for Relief of Disabled Children and Jeffrey Modell Foundation. en_US
dc.description.uri https://www.frontiersin.org/journals/immunology en_US
dc.identifier.citation Chiu, T.L.H., Leung, D., Chan, K.W., Yeung, H.M., Wong, C.Y., Mao, H.W., He, J.X., Vignesh, P., Liang, W.L., Liew, W.K., Jiang, L.P., Chen, T.X., Chen, X.Y., Tao, Y.B., Xu, Y.B., Yu, H.H., Terblanche, A., Lung, D.C., Li, C.R., Chen, J., Tian, M., Eley, B., Yang, X.T., Yang, J., Chiang, W.C., Lee, B.W., Suri, D., Rawat, A., Gupta, A., Singh, S., Wong, W.H.S., Chua, G.T., Duque, J.S.D., Cheong, K.N., Chong, P.C.Y., Ho, M.H.K., Lee, T.L., Yang, W.L., Lee, P.M.L.P. & Lau, Y.L. (2022) Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease. Frontiers in Immunology 12:803763, doi: 10.3389/fimmu.2021.803763. en_US
dc.identifier.issn 1664-3224 (online)
dc.identifier.other 10.3389/fimmu.2021.803763
dc.identifier.uri https://repository.up.ac.za/handle/2263/86563
dc.language.iso en en_US
dc.publisher Frontiers Media SA en_US
dc.rights © 2022 Chiu, Leung, Chan, Yeung, Wong, Mao, He, Vignesh, Liang, Liew, Jiang, Chen, Chen, Tao, Xu, Yu, Terblanche, Lung, Li, Chen, Tian, Eley, Yang, Yang, Chiang, Lee, Suri, Rawat, Gupta, Singh, Wong, Chua, Duque, Cheong, Chong, Ho, Lee, Yang, Lee and Lau. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). en_US
dc.subject Chronic granulomatous disease (CGD) en_US
dc.subject Inborn error of immunity (IEI) en_US
dc.subject Human phenotype ontology (HPO) en_US
dc.subject Phenome en_US
dc.subject Genetics en_US
dc.subject Autosomal recessive mode en_US
dc.subject Xlinked mode en_US
dc.title Phenomic analysis of chronic granulomatous disease reveals more severe integumentary infections in X-Linked compared with autosomal recessive chronic granulomatous disease en_US
dc.type Article en_US


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