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1. Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G.

Author

Min-Sun Kim, Young-Uk Cho, Seongsoo Jang, Eul-Ju Seo, Ho Joon Im, and Chan-Jeoung Park

Subjects
INFANT diseases, PLATELET-rich fibrin, GENETIC mutation, FERRITIN, SPLENOMAGALY, PUBLIC health
Abstract

The article presents a case study of a two-month-old female was hospitalized due to fever, has undergone a series of medical tests wherein it was revealed that the infant has splenomegaly, hypofibrinogenemia, and elevated ferritin level due to platelet-rich fibrin mutation. The author also notes that the mutation is unique to the Korean and Japanese population.

Published
2017
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