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

• Hlavní autoři: Jae Yeon Kim (Autor), Jeong Hee Shin (Autor), Se In Sung (Autor), Jin Kyu Kim (Autor), Ji Mi Jung (Autor), So Yoon Ahn (Autor), Eun Sun Kim (Autor), Ja-Young Seo (Autor), Eun-Sook Kang (Autor), Sun-Hee Kim (Autor), Hee-Jin Kim (Autor), Yun Sil Chang (Autor), Won Soon Park (Autor)
• Médium: Kniha
• Vydáno: Korean Pediatric Society, 2014-01-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

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...