A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis
Korean Journal of Pediatrics 2014³â 57±Ç 1È£ p.50 ~ p.53
±èÀ翬(Kim Jae-Yeon) - Samsung Medical Center Department of Pediatrics
½ÅÁ¤Èñ(Shin Jeong-Hee) - Samsung Medical Center Department of Pediatrics
¼º¼¼ÀÎ(Sung Se-In) - Samsung Medical Center Department of Pediatrics
±èÁø±Ô(Kim Jin-Kyu) - Samsung Medical Center Department of Pediatrics
Á¤Áö¹Ì(Jung Ji-Mi) - Samsung Medical Center Department of Pediatrics
¾È¼ÒÀ±(Ahn So-Yoon) - Samsung Medical Center Department of Pediatrics
±èÀº¼±(Kim Eun-Sun) - Samsung Medical Center Department of Pediatrics
¼ÀÚ¿µ(Seo Ja-Young) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
°Àº¼÷(Kang Eun-Sook) - Samsung Medical Center Department of Laboratory Medicine and Genetics
±è¼øÈñ(Kim Sun-Hee) - Samsung Medical Center Department of Laboratory Medicine and Genetics
±èÈñÁø(Kim Hee-Jin) - Samsung Medical Center Department of Laboratory Medicine and Genetics
ÀåÀ±½Ç(Chang Yun-Sil) - Samsung Medical Center Department of Pediatrics
¹Ú¿ø¼ø(Park Won-Soon) - Samsung Medical Center Department of Pediatrics
Abstract
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 severe sepsis-like features and required mechanical ventilation and continuous venovenous hemodiafiltration. Flow cytometry analysis showed marked HLH and complete absence of intracytoplasmic perforin expression in cytotoxic cells; therefore, we performed molecular genetic analyses for PRF1 mutations, which showed that the patient had a compound heterozygous mutation in PRF1, that is, c.65delC (p.Pro22Argfs*2) and c.1090_1091delCT (p.Leu364Glufs*93). Clinical and genetic assessments for FHL are required for neonates with refractory fever and progressive multiple organ failure, particularly when there is no evidence of microbiological or metabolic cause.
Å°¿öµå
FHL2, PRF1, Mutation, Neonate
KMID :
1130320140570010050
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