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KMID : 1130320140570010050
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Korean Journal of Pediatrics
2014 Volume.57 No. 1 p.50 ~ p.53
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A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis
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Kim Jae-Yeon
Shin Jeong-Hee
Sung Se-In
Kim Jin-Kyu
Jung Ji-Mi
Ahn So-Yoon
Kim Eun-Sun
Seo Ja-Young
Kang Eun-Sook
Kim Sun-Hee
Kim Hee-Jin
Chang Yun-Sil
Park Won-Soon
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Abstract
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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.
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KEYWORD
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FHL2, PRF1, Mutation, Neonate
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