Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH

BACKGROUND: Hemophagocytic lymphohistocytosis (HLH) is a rare but fatal hyperinflammatory syndrome caused by uncontrolled proliferation of activated macrophages and T lymphocytes secreting high amounts of inflammatory cytokines. Genetic defect is a common cause of HLH. HLH is complicated to be diagn...

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Detalles Bibliográficos
Autores principales: Zhou, Shiyuan, Ma, Hongyu, Gao, Bo, Fang, Guangming, Zeng, Yi, Zhang, Qing, Qi, GaoFu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5310059/
https://www.ncbi.nlm.nih.gov/pubmed/28196537
http://dx.doi.org/10.1186/s12881-017-0376-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5310059/
https://www.ncbi.nlm.nih.gov/pubmed/28196537
http://dx.doi.org/10.1186/s12881-017-0376-9

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