Transition practice for primary immunodeficiency diseases in Southeast Asia: a regional survey

Autor: Chee Mun Chan, Amir Hamzah Abdul Latiff, Lokman Mohd Noh, Intan Hakimah Ismail, Intan Juliana Abd Hamid, Woei Kang Liew, Youjia Zhong, Narissara Suratannon, Rapisa Nantanee, Fatima Johanna Santos-Ocampo, Mary Anne R. Castor, Le Nguyen-Ngoc-Quynh, Anh Thi Van Nguyen, Huyen Thanh Thuc, Nguyen Minh Tuan, Dina Muktiarti, Rizqi Amalia, Sophâl Chean, Lytheang Try, Adli Ali

Publikováno v: Frontiers in Immunology, Vol 14 (2023)

IntroductionWith increased diagnostic capabilities and treatment modalities in the field of primary immunodeficiencies (PID), many pediatric patients survive beyond childhood and experience a change of care to the adult-oriented healthcare system. Un

Externí odkaz: https://doaj.org/article/f2d98794baa14b478b0bd47ff14a2534

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity

Autor: Koon-Wing Chan, Chung-Yin Wong, Daniel Leung, Xingtian Yang, Susanna F. S. Fok, Priscilla H. S. Mak, Lei Yao, Wen Ma, Huawei Mao, Xiaodong Zhao, Weiling Liang, Surjit Singh, Mohamed-Ridha Barbouche, Jian-Xin He, Li-Ping Jiang, Woei-Kang Liew, Minh Huong Thi Le, Dina Muktiarti, Fatima Johanna Santos-Ocampo, Reda Djidjik, Brahim Belaid, Intan Hakimah Ismail, Amir Hamzah Abdul Latiff, Way Seah Lee, Tong-Xin Chen, Jinrong Liu, Runming Jin, Xiaochuan Wang, Yin Hsiu Chien, Hsin-Hui Yu, Dinesh Raj, Revathi Raj, Jenifer Vaughan, Michael Urban, Sylvia van den Berg, Brian Eley, Anselm Chi-Wai Lee, Mas Suhaila Isa, Elizabeth Y. Ang, Bee Wah Lee, Allen Eng Juh Yeoh, Lynette P. Shek, Nguyen Ngoc Quynh Le, Van Anh Thi Nguyen, Anh Phan Nguyen Lien, Regina D. Capulong, Joanne Michelle Mallillin, Jose Carlo Miguel M. Villanueva, Karol Anne B. Camonayan, Michelle De Vera, Roxanne J. Casis-Hao, Rommel Crisenio M. Lobo, Ruby Foronda, Vicky Wee Eng Binas, Soraya Boushaki, Nadia Kechout, Gun Phongsamart, Siriporn Wongwaree, Chamnanrua Jiratchaya, Mongkol Lao-Araya, Muthita Trakultivakorn, Narissara Suratannon, Orathai Jirapongsananuruk, Teerapol Chantveerawong, Wasu Kamchaisatian, Lee Lee Chan, Mia Tuang Koh, Ke Juin Wong, Siew Moy Fong, Meow-Keong Thong, Zarina Abdul Latiff, Lokman Mohd Noh, Rajiva de Silva, Zineb Jouhadi, Khulood Al-Saad, Pandiarajan Vignesh, Ankur Kumar Jindal, Amit Rawat, Anju Gupta, Deepti Suri, Jing Yang, Elaine Yuen-Ling Au, Janette Siu-Yin Kwok, Siu-Yuen Chan, Wayland Yuk-Fun Hui, Gilbert T. Chua, Jaime Rosa Duque, Kai-Ning Cheong, Patrick Chun Yin Chong, Marco Hok Kung Ho, Tsz-Leung Lee, Wilfred Hing-Sang Wong, Wanling Yang, Pamela P. Lee, Wenwei Tu, Xi-Qiang Yang, Yu Lung Lau

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian

Externí odkaz: https://doaj.org/article/e0001b5e732a40f496811e7631968120

DISSEMINATED BACILLUS-CALMETTE-GUÉRIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEW

Autor: Rina Yue Ling Ong, Su-Wan Bianca Chan, Siu Jun Chew, Woei Kang Liew, Koh Cheng Thoon, Chia-Yin Chong, Chee Fu Yung, Li-Hwei Sng, Ah Moy Tan, Rajat Bhattacharyya, Saumya Shekhar Jamuar, Jiin Ying Lim, Jiahui Li, Karen Donceras Nadua, Kai-qian Kam, Natalie Woon-Hui Tan

Publikováno v: International Journal of Infectious Diseases, Vol 97, Iss , Pp 117-125 (2020)

Background: Disseminated Bacillus Calmette-Guérin (BCG) disease (BCGosis) is a classical feature of children with primary immunodeficiency disorders (PIDs). Methods: A 15-year retrospective review was conducted in KK Women's and Children's Hospital

Externí odkaz: https://doaj.org/article/a42d9819a7094fddbda0c6908ceaeb01

Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease

Autor: Timothy Lok-Hin Chiu, Daniel Leung, Koon-Wing Chan, Hok Man Yeung, Chung-Yin Wong, Huawei Mao, Jianxin He, Pandiarajan Vignesh, Weiling Liang, Woei Kang Liew, Li-Ping Jiang, Tong-Xin Chen, Xiang-Yuan Chen, Yin-Bo Tao, Yong-Bin Xu, Hsin-Hui Yu, Alta Terblanche, David Christopher Lung, Cheng-Rong Li, Jing Chen, Man Tian, Brian Eley, Xingtian Yang, Jing Yang, Wen Chin Chiang, Bee Wah Lee, Deepti Suri, Amit Rawat, Anju Gupta, Surjit Singh, Wilfred Hing Sang Wong, Gilbert T. Chua, Jaime Sou Da Rosa Duque, Kai-Ning Cheong, Patrick Chun-Yin Chong, Marco Hok-Kung Ho, Tsz-Leung Lee, Wanling Yang, Pamela P. Lee, Yu Lung Lau

Publikováno v: Frontiers in Immunology, Vol 12 (2022)

BackgroundChronic 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

Externí odkaz: https://doaj.org/article/4e9bbac58e3d4de0a00a92ba177095a5

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Autor: Saumya Shekhar Jamuar, Jyn Ling Kuan, Maggie Brett, Zenia Tiang, Wilson Lek Wen Tan, Jiin Ying Lim, Wendy Kein Meng Liew, Asif Javed, Woei Kang Liew, Hai Yang Law, Ee Shien Tan, Angeline Lai, Ivy Ng, Yik Ying Teo, Byrappa Venkatesh, Bruno Reversade, Ene Choo Tan, Roger Foo

Publikováno v: EBioMedicine, Vol 5, Iss C, Pp 211-216 (2016)

Background: In Western cohorts, the prevalence of incidental findings (IFs) or incidentalome, referring to variants in genes that are unrelated to the patient's primary condition, is between 0.86% and 8.8%. However, data on prevalence and type of IFs

Externí odkaz: https://doaj.org/article/9a1d349e4a744bf286343a765509a0bd