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

Autor: Min-Sun Kim, Young-Uk Cho, Seongsoo Jang, Eul-Ju Seo, Ho Joon Im, Chan-Jeoung Park
Předmět:
Zdroj: Annals of Laboratory Medicine; Mar2017, Vol. 37 Issue 2, p162-165, 4p
Abstrakt: 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.
Databáze: Complementary Index