Ann Lab Med.  2015 Jan;35(1):155-158. 10.3343/alm.2015.35.1.155.

First Report on Familial Hemophagocytic Lymphohistiocytosis with an Abnormal Immunophenotype and T Cell Monoclonality in Korea

• Shin SY
• Lee K
• Jang MA
• Lee ST
• Yoo KH
• Koo HH
• Kim DS
• Kim HJ
• Kim SH

• KMID: 2363167
• DOI: http://doi.org/10.3343/alm.2015.35.1.155

Abstract

No abstract available.

MeSH Terms

Bone Marrow/metabolism/pathology
DNA Mutational Analysis
Gene Rearrangement, T-Lymphocyte
Humans
Immunophenotyping
Infant
Lymphohistiocytosis, Hemophagocytic/*diagnosis
Male
Membrane Proteins/chemistry/genetics
Polymorphism, Single-Stranded Conformational
Republic of Korea
T-Lymphocytes/immunology/*metabolism
Membrane Proteins

Figure

• 

  Fig. 1 Peripheral blood smear, bone marrow biopsy and aspirate. (A) Pancytopenia and atypical lymphoid cells were observed in peripheral blood smear (Wright-Giemsa stain; magnification, ×1,000). (B) Hemophagocytic histiocytes were frequently observed in bone marrow aspiration (Wright-Giemsa stain; magnification, ×1,000). (C) Histiocytes were high in number in the biopsy section (Hematoxylin-Eosin stain; magnification ×200). (D) CD68 immunization (magnification, ×400).

• 

  Fig. 2 Sequencing analysis, flow cytometry results, and single-strand conformational polymorphism (SSCP) analysis of the T cell receptor by using paraffin-embedded tissue samples. (A) Compound heterozygous mutations in the UNC13D gene were observed: C to T substitution at nucleotide -308 of intron 1, relative to the cDNA positioned between nucleotides 117 and 118 (118-308C>T). (B) G to C substitution at nucleotide -1 of intron 9, relative to the cDNA positioned between nucleotides 753 and 754 (754-1G>C). The CD3+/CD8+ T cells (red). (C) showed variable downregulation of CD5 or CD7 (lack of expression) compared with CD3+/CD4+ cells (blue, presumably normal T cells; D and E). (F) DNA was extracted from paraffin-embedded bone marrow tissue. Consensus primer for Vγ1-8, Vγ9-11 was used for amplification. PCR products were analyzed by SSCP, which separated DNA fragments according to nucleotide sequence. Well-defined, distinct bands were considered evidence of monoclonality. The two black arrows indicate the distinct monoclonal band at the level of the lowest smear in the polyclonal control (-). Monoclonality was observed in Vγ1-8, and polyclonality was observed in Vγ9-11.

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