Ayano Yokoi1, Yo Niida2, Mondo Kuroda1, Yoko Imi-Hashida1, Tomoko Toma1, Akihiro Yachie3. 1. Department of Pediatrics, School of Medicine, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan. 2. Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Uchinada, Japan. 3. Department of Pediatrics, School of Medicine, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan. yachie@staff.kanazawa-u.ac.jp.
Abstract
BACKGROUND: I-cell disease is characterized by the presence of vacuole-like inclusions in lymphocytes. However, the nature and clinical significance of these inclusions have seldom been characterized. In this study, the authors tried to elucidate the distribution in different lymphocyte subpopulations, and the histological nature of the inclusions. METHODS: Blood samples from three unrelated patients were analyzed. Lymphocyte subpopulations were separated using monoclonal antibodies conjugated to immunomagnetic beads. Cytochemical studies were performed using FITC-conjugated lectins. The expressions of surface and cytoplasmic class II molecules were analyzed by flow cytometry. RESULTS: Virtually all B cells from the patients contained the inclusions. In contrast, CD4+ T cells, CD8+ T cells, natural killer cells, monocytes, or neutrophils did not contain the inclusions. Both fibroblasts and B cells from I-cell patients were stained intensely by multiple FITC-conjugated lectins with distinct binding profiles. The inclusions of B cells were stained intensely by fluorescence-conjugated antibodies against class II antigens. CONCLUSIONS: Inclusions in I-cell disease reflect the accumulation of HLA class II molecules within B cells. These results suggest a potential role for N-acetylglucosamine-1-phosphotransferase in immune functions. Furthermore, the fact that only B cells contain the inclusions provides a novel diagnostic aid for the diagnosis of I-cell disease.
BACKGROUND:I-cell disease is characterized by the presence of vacuole-like inclusions in lymphocytes. However, the nature and clinical significance of these inclusions have seldom been characterized. In this study, the authors tried to elucidate the distribution in different lymphocyte subpopulations, and the histological nature of the inclusions. METHODS: Blood samples from three unrelated patients were analyzed. Lymphocyte subpopulations were separated using monoclonal antibodies conjugated to immunomagnetic beads. Cytochemical studies were performed using FITC-conjugated lectins. The expressions of surface and cytoplasmic class II molecules were analyzed by flow cytometry. RESULTS: Virtually all B cells from the patients contained the inclusions. In contrast, CD4+ T cells, CD8+ T cells, natural killer cells, monocytes, or neutrophils did not contain the inclusions. Both fibroblasts and B cells from I-cell patients were stained intensely by multiple FITC-conjugated lectins with distinct binding profiles. The inclusions of B cells were stained intensely by fluorescence-conjugated antibodies against class II antigens. CONCLUSIONS: Inclusions in I-cell disease reflect the accumulation of HLA class II molecules within B cells. These results suggest a potential role for N-acetylglucosamine-1-phosphotransferase in immune functions. Furthermore, the fact that only B cells contain the inclusions provides a novel diagnostic aid for the diagnosis of I-cell disease.