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Clinical Course in a Patient With Neutrophil-Specific Granule Deficiency and Rapid Detection of Neutrophil Granules as a Screening Test

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Abstract

Purpose

Neutrophil-specific granule deficiency (SGD) is a rare, congenital disorder characterized by atypical neutrophil structure and function that results in frequent and severe bacterial infections. However, the clinical course of patients with SGD have not been described in detail because of the scarcity of the disease. We present the clinical course of an adult patient with SGD and propose a method for making an early diagnosis of SGD.

Patient and Methods

A32-year-old Japanese woman with SGD had a small impetigo lesion on her face and experienced the rapid spread of a facial abscess to a pulmonary abscess via the blood stream. We also analyzed the expression of neutrophil granule proteins in our patient compared with a healthy control by flow cytometry.

Results

We confirmed defects of several neutrophil granule proteins in our patient by flow cytometry.

Conclusion

Severe bacterial infections sometimes occur and spread rapidly in SGD. Detection of neutrophil granules by flow cytometry is useful for a rapid diagnosis and a screening of SGD.

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Acknowledgments

This work is supported by Grants-in-Aid from the Japanese Ministry of Health, Labor and Welfare.

Conflict of interest

The authors declare no conflicts of interest.

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Authors and Affiliations

  1. Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, 390-8621, Japan

    Tomonari Shigemura, Masaaki Shiohara, Norimoto Kobayashi & Kenich Koike

  2. Department of Pediatrics Saitama Medical Center, Saitama Medical University, Kawagoe, 350-8550, Japan

    Takashi Yamazaki

  3. Department of Pediatrics, Ina Central Hospital, Ina, 396-8550, Japan

    Kuniaki Naganuma

  4. Department of Infection and Host Defense Graduate School of Medicine, Shinshu University, Matsumoto, 390-8621, Japan

    Kazunaga Agematsu

Authors
  1. Tomonari Shigemura
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  2. Takashi Yamazaki
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  3. Masaaki Shiohara
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  4. Norimoto Kobayashi
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  5. Kuniaki Naganuma
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  6. Kenich Koike
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  7. Kazunaga Agematsu
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Corresponding author

Correspondence to Kazunaga Agematsu.

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Shigemura, T., Yamazaki, T., Shiohara, M. et al. Clinical Course in a Patient With Neutrophil-Specific Granule Deficiency and Rapid Detection of Neutrophil Granules as a Screening Test. J Clin Immunol 34, 780–783 (2014). https://doi.org/10.1007/s10875-014-0082-8

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  • DOI: https://doi.org/10.1007/s10875-014-0082-8

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