A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis

We report the first Far Eastern case of a Korean child with familial hemophagocytic lymphohistiocytosis (HLH) caused by a novel syntaxin 11 (STX11) mutation. A 33-month-old boy born to non-consanguineous Korean parents was admitted for intermittent fever lasting one week, pancytopenia, hepatosplenom...

Descripción completa

Detalles Bibliográficos
Autores principales: Sultanova, Ardak K., Kim, Seong-koo, Lee, Jae Wook, Jang, Pil-Sang, Chung, Nack-Gyun, Cho, Bin, Park, Joonhong, Kim, Yonggoo, Kim, Myungshin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4713852/
https://www.ncbi.nlm.nih.gov/pubmed/26709266
http://dx.doi.org/10.3343/alm.2016.36.2.170

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4713852/
https://www.ncbi.nlm.nih.gov/pubmed/26709266
http://dx.doi.org/10.3343/alm.2016.36.2.170

Ejemplares similares