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

A novel 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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Bibliographic Details
Main Authors: Jae Yeon Kim, Jeong Hee Shin, Se In Sung, Jin Kyu Kim, Ji Mi Jung, So Yoon Ahn, Eun Sun Kim, Ja-Young Seo, Eun-Sook Kang, Sun-Hee Kim, Hee-Jin Kim, Yun Sil Chang, Won Soon Park
Format: Article
Language:English
Published: Korean Pediatric Society 2014-01-01
Series:Korean Journal of Pediatrics
Subjects:
FHL2
PRF1
Mutation
Neonate
Online Access:http://kjp.or.kr/upload/pdf/kjped-57-50.pdf

Internet

http://kjp.or.kr/upload/pdf/kjped-57-50.pdf

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