Ann Lab Med.  2017 Mar;37(2):162-165. 10.3343/alm.2017.37.2.162.

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

• Kim MS
• Cho YU
• Jang S
• Seo EJ
• Im HJ
• Park CJ

• KMID: 2373636
• DOI: http://doi.org/10.3343/alm.2017.37.2.162

Abstract

No abstract available.

MeSH Terms

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

Figure

• 

  Fig. 1 Results of intracellular flow cytometry, a cytotoxicity assay, and an assessment of bone marrow aspirate. (A) Intracellular perforin expression in naturl killer (NK) cells and cytotoxic T cells from the patient was reduced (0.4% and 11.5%, respectively), compared with a healthy control (68.8% and 13.4%, respectively, data not shown). (B) NK cell cytotoxicity was tested by incubating peripheral blood mononuclear cells with FITC-labeled NK-sensitive target cells (K562 cells). The cell population in upper right quadrant indicated killed K562 cells. NK cell cytotoxicity was impaired in the patient (3.2%, lower histogram) compared with a normal control (16.0%, upper histogram). (C) Bone marrow aspirate smear showed numerous histioytes engulfing various types of hematopoietic cells (Wright-Giemsa stain, ×1,000).Abbreviations: SSC, side scattered light; FITC, fluorescein isothiocyanate; PI, propidium iodide.

• 

  Fig. 2 Direct sequencing results of the PRF1 gene of the patient indicates compound heterozygous mutations. Upper panel shows an electropherogram of the c.65delC mutation (p.Pro22Argfs*29), which is the paternal allele. Lower panel shows an electropherogram of the c.1091T>G mutation (p.Leu364Arg), which is the maternal allele.

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