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CD40LG mutations in Vietnamese patients with X‐linked hyper‐IgM syndrome; catastrophic anti‐phospholipid syndrome as a new complication

BACKGROUND: X‐linked hyper‐IgM syndrome (XHIGM) is a rare primary immunodeficiency caused by CD40 ligand defects. METHODS: We identified three patients with XHIGM in Ho Chi Minh City, Vietnam. Whole‐exome sequencing, immunological analyses and western blot were performed to investigate phenotypic an...

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Detalles Bibliográficos
Autores principales: Phan, Anh Nguyen Lien, Pham, Thuy Thi Thanh, Phan, Xinh Thi, Huynh, Nghia, Nguyen, Tuan Minh, Cao, Cuc Tran Thu, Nguyen, Duong Thuy, Luong, Khanh Thi Xuan, Nguyen, Tam Thi Minh, Tran, Anh Ngoc Kim, Pham, Linh Thi Truc, Nguyen, Vy Vuong Thao, Swagemakers, Sigrid, Bui, Chi‐Bao, Van Hagen, Petrus Martinus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404229/
https://www.ncbi.nlm.nih.gov/pubmed/34114358
http://dx.doi.org/10.1002/mgg3.1732