Familial hemophagocytic lymphohistiocytosis type 5 in a Chinese Tibetan patient caused by a novel compound heterozygous mutation in STXBP2

RATIONALE: Familial hemophagocytic lymphohistiocytosis (FHL) is a fatal autosomal recessive immunodeficiency disease whose rapid and accurate diagnosis is paramount for appropriate treatment. Mutations in STXBP2 gene have been associated with FHL type 5 (FHL-5). Here, we report the first Tibetan Chi...

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Detalles Bibliográficos
Autores principales: Tang, Xue, Guo, Xia, Li, Qiang, Huang, Zhuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
4800
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824734/
https://www.ncbi.nlm.nih.gov/pubmed/31651895
http://dx.doi.org/10.1097/MD.0000000000017674

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824734/
https://www.ncbi.nlm.nih.gov/pubmed/31651895
http://dx.doi.org/10.1097/MD.0000000000017674

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