A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH) occurs in the primary form (genetic or familial) or secondary form (acquired). The familial form of HLH (FHL) is a potentially fatal autosomal recessive disorder that occurs because of constitutional defects in cell-mediated cytotoxicity. Here, we report a fa...

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Autors principals: Kim, Jae Yeon, Shin, Jeong Hee, Sung, Se In, Kim, Jin Kyu, Jung, Ji Mi, Ahn, So Yoon, Kim, Eun Sun, Seo, Ja-Young, Kang, Eun-Sook, Kim, Sun-Hee, Kim, Hee-Jin, Chang, Yun Sil, Park, Won Soon
Format: Artigo
Idioma:Inglês
Publicat: The Korean Pediatric Society 2014
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3935114/
https://ncbi.nlm.nih.gov/pubmed/24578718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2014.57.1.50
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