Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G
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Dear Editor, Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory disorder that is characterized by fever, hepatosplenomegaly, and cytopenia. Primary HLH is an autosomal recessive disease and appears in infants or young children, whereas secondary HLH affects older children or adults who do not have a family history of similar conditions or a confirmed genetic disorder. Known gene mutations and their associated familial HLH (FHL) subtypes are as follows: PRF1 with FHL2, UNC13D with FHL3, STX11 with FHL4, and most recently, STXBP2 with FHL5 [1]. Here, we report a rare case of HLH with a novel PRF1 mutation.
Abstract
Dear Editor, Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory disorder that is characterized by fever, hepatosplenomegaly, and cytopenia. Primary HLH is an autosomal recessive disease and appears in infants or young children, whereas secondary HLH affects older children or adults who do not have a family history of similar conditions or a confirmed genetic disorder. Known gene mutations and their associated familial HLH (FHL) subtypes are as follows: PRF1 with FHL2, UNC13D with FHL3, STX11 with FHL4, and most recently, STXBP2 with FHL5 [1]. Here, we report a rare case of HLH with a novel PRF1 mutation.
참고문헌 (10)
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