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IgG4 deficiency with Rothmund-Thomson syndrome: A case report

  • Immunology/Allergology
  • Published:
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Abstract

We describe a patient with Rothmund-Thomson syndrome and IgG4 deficiency. In vitro examination of his peripheral mononuclear cells revealed impaired IgG4 synthesis. Susceptibility to sinus and pulmonary infections was cured by monthly immunoglobulin infusions.

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Abbreviations

Ig:

Immunoglobulin

IL-4:

interleukin 4

PMNC:

peripheral mononuclear cells

PWM:

pokeweed mitogen

RTS:

Rothmund-Thomson syndrome

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Authors and Affiliations

  1. Department of Paediatrics, Kyoto University, Sakyo-ku, 606, Kyoto, Japan

    M. Kubota, M. Yasunaga, H. Hashimoto, H. Kimata & H. Mikawa

  2. Department of Dermatology, Kyoto University, Sakyo-ku, 606, Kyoto, Japan

    A. Shinya & C. Nishigori

Authors
  1. M. Kubota
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  2. M. Yasunaga
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  3. H. Hashimoto
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  4. H. Kimata
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  5. H. Mikawa
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  6. A. Shinya
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  7. C. Nishigori
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Kubota, M., Yasunaga, M., Hashimoto, H. et al. IgG4 deficiency with Rothmund-Thomson syndrome: A case report. Eur J Pediatr 152, 406–408 (1993). https://doi.org/10.1007/BF01955898

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  • DOI: https://doi.org/10.1007/BF01955898

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