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

• Main Authors: Jae Yeon Kim (Author), Jeong Hee Shin (Author), Se In Sung (Author), Jin Kyu Kim (Author), Ji Mi Jung (Author), So Yoon Ahn (Author), Eun Sun Kim (Author), Ja-Young Seo (Author), Eun-Sook Kang (Author), Sun-Hee Kim (Author), Hee-Jin Kim (Author), Yun Sil Chang (Author), Won Soon Park (Author)
• Format: Book
• Published: Korean Pediatric Society, 2014-01-01T00:00:00Z.
• Subjects: article
• Online Access: 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...