Clinical Research Article | Published:

B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease)

Pediatric Research (2018) | Download Citation




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.


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.


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.


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.

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We would like to thank Ms. Harumi Matsukawa for her excellent technical assistance. This work was supported by a Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science, and Technology of Japan, and a grant from the Ministry of Health, Labour, and Welfare of Japan, Tokyo.

Author information


  1. Department of Pediatrics, School of Medicine, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan

    • Ayano Yokoi
    • , Mondo Kuroda
    • , Yoko Imi-Hashida
    • , Tomoko Toma
    •  & Akihiro Yachie
  2. Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Uchinada, Japan

    • Yo Niida


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A.Y. and Y.I.-H.: Provided substantial contributions to the conception and design of the study, the acquisition of data, and the analysis and interpretation of the data. T.T.: Provided critical advice for the technical aspects of the study. M.K.: Drafted the article and revised it critically for important intellectual content. Y.N. and A.Y.: Provided final approval of the version to be published.

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The authors declare no competing interests.

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Correspondence to Akihiro Yachie.

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