Availability of Data and Material
Not applicable.
Code Availability
Not applicable.
References
Crow YJ. Type I interferonopathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci. 2011;1238:91–8.
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.
Wilson GN, Raj A, Baker D. The phenotypic and cytogenetic spectrum of partial trisomy 9. Am J Med Genet. 1985;20(2):277–82.
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.
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.
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
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
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.
Rights and permissions
About this article
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
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10875-021-01153-w