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 |