Skip to main content
SpringerLink
Log in

Partial Trisomy 9p with Clinical Symptoms Resembling Interferonopathies

  • Letter to Editor
  • Published:
Journal of Clinical Immunology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Availability of Data and Material

Not applicable.

Code Availability

Not applicable.

References

  1. Crow YJ. Type I interferonopathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci. 2011;1238:91–8.

    Article  CAS  Google Scholar 

  2. Rice GI, Melki I, Fremond ML, et al. Assessment of type I interferon signaling in pediatric inflammatory disease. J Clin Immunol. 2017;37(2):123–32.

    Article  CAS  Google Scholar 

  3. Wilson GN, Raj A, Baker D. The phenotypic and cytogenetic spectrum of partial trisomy 9. Am J Med Genet. 1985;20(2):277–82.

    Article  CAS  Google Scholar 

  4. Zhuang H, Kosboth M, Lee P, et al. Lupus-like disease and high interferon levels corresponding to trisomy of the type I interferon cluster on chromosome 9p. Arthritis Rheum. 2006;54(5):1573–9.

    Article  CAS  Google Scholar 

  5. Frémond ML, Gitiaux C, Bonnet D, et al. Mosaic Tetrasomy 9p: a Mendelian condition associated with pediatric-onset overlap myositis. Pediatrics. 2015;136(2):e544–7.

    Article  Google Scholar 

Download references

Acknowledgements

We would like to thank Dr. Fujiko Fukushima for providing the medical information in this case and Dr. Brian Quinn for reviewing the manuscript.

Funding

No specific funding was received from any bodies in the public, commercial or not-for-profit sectors to carry out the work described in this article.

Author information

Authors and Affiliations

  1. Department of Allergy and Rheumatology, Chiba Children’s Hospital, 579-1 Heta-cho, Midori-ku, Chiba City, Chiba, 266-0007, Japan

    Yuzaburo Inoue

  2. Benaroya Research Institute at Virginia Mason, Seattle, USA

    Takeshi Yamamoto

  3. Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan

    Yoshitaka Honda, Kazushi Izawa & Takahiro Yasumi

Authors
  1. Yuzaburo Inoue
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Takeshi Yamamoto
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Yoshitaka Honda
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Kazushi Izawa
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Takahiro Yasumi
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

YI wrote the manuscript. YI and TY took clinical care of the patient. YH, KI, and TY performed the experiments. All authors edited and approved the final version.

Corresponding author

Correspondence to Yuzaburo Inoue.

Ethics declarations

Ethics Approval

This study was performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments and was approved by the Ethics Committee for Research of Chiba Children’s Hospital.

Consent to Participate

The patient’s parents have consented to the submission of the case report to the journal.

Consent for Publication

The patient’s parents have consented to the submission of the case report to the journal.

Competing Interests

The authors declare no competing interests.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplemental Figure 1

The results of a 180K Agilent microarray analysis showing duplication in 9p13.1 to 9p24.3.

Supplementary file2 (TIF 68429 KB)

Supplementary file3 (DOCX 16 KB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Inoue, Y., Yamamoto, T., Honda, Y. et al. Partial Trisomy 9p with Clinical Symptoms Resembling Interferonopathies. J Clin Immunol 42, 203–205 (2022). https://doi.org/10.1007/s10875-021-01153-w

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10875-021-01153-w

Keywords

Search

Navigation