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

Different Biological Characteristics of Macrophages from BALB/c Mice and Severe Combined Immunodeficient Mice

Autor: Lan Yao, Xi-qiang Yang, Yating Wang, Yu Zhang, Chong Luo, Xuemei Tang

Publikováno v: Clinical laboratory. 64(4)

Background Our previous research has found that absence of lymphocytes during development may affect innate activity of immune cells. To better understand the effect of lymphocyte defects on macrophages during development, we compared the biological

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3863b2dd20460b83fcda017abd92d81
https://pubmed.ncbi.nlm.nih.gov/29739091

Clinical Features, STAT3 Gene Mutations and Th17 Cell Analysis in Nine Children with Hyper-IgE Syndrome in Mainland China

Autor: Wei Liu, L. Shu, Daoqi Wu, Lu-Ying Zhang, Li-Ping Jiang, Xiaodong Zhao, X.-M. Tang, Mo Wang, Wen Tian, Xi-qiang Yang, Y.-Z. Zhan, Y.-X. Cui

Publikováno v: Scandinavian Journal of Immunology. 78:258-265

Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency disease characterized by eczema, recurrent staphylococcal aureus skin abscesses, pneumonia with pneumatocele formation, remarkably high serum IgE levels, eosinophilia and involvement of ske

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21688dd325c1e45db8218bb00ef731af
https://doi.org/10.1111/sji.12063

Genetic Characterization of Fusion Protein of Human Respiratory Syncytial Virus: Beijing

Autor: Kun-ling Shen, Qi Lu, Jia-lin Yu, Chun-xia Zhao, Yan Zhang, Xi-qiang Yang, Wen-bo Xu

Publikováno v: Infection International, Vol 1, Iss 2, Pp 74-79 (2012)

Objective Fusion protein is a subunit of the human respiratory syncytial virus (HRSV) and a potential vaccine candidate. Thus, a study on the genetic characteristics of F protein was considered important for further investigations in this field. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd167bf5a61b2ec7b5e4966b35596c3e
http://www.degruyter.com/view/j/ii.2012.1.issue-2/ii-2017-0011/ii-2017-0011.xml?format=INT

Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China

Autor: Xuemei Tang, Li-Ping Jiang, Zhi-Yong Zhang, Cui Zhang, Xi-qiang Yang, Junfeng Wu, Xiaodong Zhao

Publikováno v: World Journal of Pediatrics. 9:42-47

X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations of the gene for the γ-chain (γc) of the interleukin-2 receptor, IL2RG. We analyzed the clinical, immunologic, and molecular characte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c3b32936707bf0ed4ead09c9498c132
https://doi.org/10.1007/s12519-011-0330-4