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Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease
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 X-linked (XL) or autosomal recessive (AR) mode. Phenome refers to the entire set of phenotypes expressed, and its study allow...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8818666/ https://www.ncbi.nlm.nih.gov/pubmed/35140711 http://dx.doi.org/10.3389/fimmu.2021.803763 |
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author | Chiu, Timothy Lok-Hin Leung, Daniel Chan, Koon-Wing Yeung, Hok Man Wong, Chung-Yin Mao, Huawei He, Jianxin Vignesh, Pandiarajan Liang, Weiling Liew, Woei Kang Jiang, Li-Ping Chen, Tong-Xin Chen, Xiang-Yuan Tao, Yin-Bo Xu, Yong-Bin Yu, Hsin-Hui Terblanche, Alta Lung, David Christopher Li, Cheng-Rong Chen, Jing Tian, Man Eley, Brian Yang, Xingtian Yang, Jing Chiang, Wen Chin Lee, Bee Wah Suri, Deepti Rawat, Amit Gupta, Anju Singh, Surjit Wong, Wilfred Hing Sang Chua, Gilbert T. Duque, Jaime Sou Da Rosa Cheong, Kai-Ning Chong, Patrick Chun-Yin Ho, Marco Hok-Kung Lee, Tsz-Leung Yang, Wanling Lee, Pamela P. Lau, Yu Lung |
author_facet | Chiu, Timothy Lok-Hin Leung, Daniel Chan, Koon-Wing Yeung, Hok Man Wong, Chung-Yin Mao, Huawei He, Jianxin Vignesh, Pandiarajan Liang, Weiling Liew, Woei Kang Jiang, Li-Ping Chen, Tong-Xin Chen, Xiang-Yuan Tao, Yin-Bo Xu, Yong-Bin Yu, Hsin-Hui Terblanche, Alta Lung, David Christopher Li, Cheng-Rong Chen, Jing Tian, Man Eley, Brian Yang, Xingtian Yang, Jing Chiang, Wen Chin Lee, Bee Wah Suri, Deepti Rawat, Amit Gupta, Anju Singh, Surjit Wong, Wilfred Hing Sang Chua, Gilbert T. Duque, Jaime Sou Da Rosa Cheong, Kai-Ning Chong, Patrick Chun-Yin Ho, Marco Hok-Kung Lee, Tsz-Leung Yang, Wanling Lee, Pamela P. Lau, Yu Lung |
author_sort | Chiu, Timothy Lok-Hin |
collection | PubMed |
description | 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 X-linked (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. |
format | Online Article Text |
id | pubmed-8818666 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-88186662022-02-08 Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease Chiu, Timothy Lok-Hin Leung, Daniel Chan, Koon-Wing Yeung, Hok Man Wong, Chung-Yin Mao, Huawei He, Jianxin Vignesh, Pandiarajan Liang, Weiling Liew, Woei Kang Jiang, Li-Ping Chen, Tong-Xin Chen, Xiang-Yuan Tao, Yin-Bo Xu, Yong-Bin Yu, Hsin-Hui Terblanche, Alta Lung, David Christopher Li, Cheng-Rong Chen, Jing Tian, Man Eley, Brian Yang, Xingtian Yang, Jing Chiang, Wen Chin Lee, Bee Wah Suri, Deepti Rawat, Amit Gupta, Anju Singh, Surjit Wong, Wilfred Hing Sang Chua, Gilbert T. Duque, Jaime Sou Da Rosa Cheong, Kai-Ning Chong, Patrick Chun-Yin Ho, Marco Hok-Kung Lee, Tsz-Leung Yang, Wanling Lee, Pamela P. Lau, Yu Lung Front Immunol Immunology 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 X-linked (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. Frontiers Media S.A. 2022-01-24 /pmc/articles/PMC8818666/ /pubmed/35140711 http://dx.doi.org/10.3389/fimmu.2021.803763 Text en Copyright © 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 https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Immunology Chiu, Timothy Lok-Hin Leung, Daniel Chan, Koon-Wing Yeung, Hok Man Wong, Chung-Yin Mao, Huawei He, Jianxin Vignesh, Pandiarajan Liang, Weiling Liew, Woei Kang Jiang, Li-Ping Chen, Tong-Xin Chen, Xiang-Yuan Tao, Yin-Bo Xu, Yong-Bin Yu, Hsin-Hui Terblanche, Alta Lung, David Christopher Li, Cheng-Rong Chen, Jing Tian, Man Eley, Brian Yang, Xingtian Yang, Jing Chiang, Wen Chin Lee, Bee Wah Suri, Deepti Rawat, Amit Gupta, Anju Singh, Surjit Wong, Wilfred Hing Sang Chua, Gilbert T. Duque, Jaime Sou Da Rosa Cheong, Kai-Ning Chong, Patrick Chun-Yin Ho, Marco Hok-Kung Lee, Tsz-Leung Yang, Wanling Lee, Pamela P. Lau, Yu Lung Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease |
title | Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease |
title_full | Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease |
title_fullStr | Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease |
title_full_unstemmed | Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease |
title_short | Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease |
title_sort | phenomic analysis of chronic granulomatous disease reveals more severe integumentary infections in x-linked compared with autosomal recessive chronic granulomatous disease |
topic | Immunology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8818666/ https://www.ncbi.nlm.nih.gov/pubmed/35140711 http://dx.doi.org/10.3389/fimmu.2021.803763 |
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