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

Min-Sun KIM; Young-Uk CHO; Seongsoo JANG; Eul-Ju SEO; Ho-Joon IM; Chan-Jeoung PARK

Min-Sun KIM; Young-Uk CHO; Seongsoo JANG; Eul-Ju SEO; Ho-Joon IM; Chan-Jeoung PARK.

Annals of Laboratory Medicine ; : 162-165, 2017.

Article in English | WPRIM | ID: wpr-8644

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Subject(s)

Female; Humans; Infant; Asian People/genetics; Base Sequence; Bone Marrow Cells/cytology; Cytomegalovirus Infections/diagnosis; Epstein-Barr Virus Infections/diagnosis; Flow Cytometry; Heterozygote; Killer Cells, Natural/cytology; Lymphohistiocytosis, Hemophagocytic/diagnosis; Perforin/genetics; Phagocytosis; Polymorphism, Single Nucleotide; Republic of Korea; Sequence Analysis, DNA

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Phagocytosis / Bone Marrow Cells / Base Sequence / Killer Cells, Natural / Sequence Analysis, DNA / Cytomegalovirus Infections / Epstein-Barr Virus Infections / Polymorphism, Single Nucleotide / Asian People / Lymphohistiocytosis, Hemophagocytic Limits: Female / Humans / Infant Country/Region as subject: Asia Language: English Journal: Annals of Laboratory Medicine Year: 2017 Type: Article

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