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

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

Clin Exp Pediatr. 2014;57(1):50-53. Published online January 31, 2014

Crossref 13

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 fatal neonatal case of type 2 FHL (FHL2) that involved a novel frameshift mutation. Clinically, the newborn presented with...

DOI: https://doi.org/10.3345/kjp.2014.57.1.50

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