Rapid diagnosis of FHL3 by flow cytometric detection of intraplatelet Munc13-4 protein

Yuuki Murata, Takahiro Yasumi, Ryutaro Shirakawa, Kazushi Izawa, Hidemasa Sakai, Junya Abe, Naoko Tanaka, Tomoki Kawai, Koichi Oshima, Megumu Saito, Ryuta Nishikomori, Osamu Ohara, Eiichi Ishii, Tatsutoshi Nakahata, Hisanori Horiuchi, Toshio Heike

Research output: Contribution to journalArticlepeer-review

23 Citations (Scopus)

Abstract

Familial hemophagocytic lymphohistiocytosis (FHL) is a potentially lethal genetic disorder of immune dysregulation that requires prompt and accurate diagnosis to initiate life-saving immunosuppressive therapy and to prepare for hematopoietic stem cell transplantation. In the present study, 85 patients with hemophagocytic lymphohistiocytosis were screened for FHL3 by Western blotting using platelets and by natural killer cell lysosomal exocytosis assay. Six of these patients were diagnosed with FHL3. In the acute disease phase requiring platelet transfusion, it was difficult to diagnose FHL3 by Western blot analysis or by lysosomal exocytosis assay. In contrast, the newly established flow cytometric analysis of intraplatelet Munc13-4 protein expression revealed bimodal populations of normal and Munc13-4-deficient platelets. These findings indicate that flow cytometric detection of intraplatelet Munc13-4 protein is a sensitive and reliable method to rapidly screen for FHL3 with a very small amount of whole blood, even in the acute phase of the disease.

Original languageEnglish
Pages (from-to)1225-1230
Number of pages6
JournalBlood
Volume118
Issue number5
DOIs
Publication statusPublished - 2011 Aug 4

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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