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Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH1

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Fig. 1

Data Availability

The datasets during and/or analyzed during the current study are available from the corresponding author on reasonable request.

Code Availability

Not applicable.

References

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Funding

This study was supported by Grants-in-Aid for Scientific Research from the Japan Society for the Promotion of Science (20K17897 to KY) (20H03782 to NS) (16H05355 and 19H03620 to SO), Promotion of Joint International Research from the Japan Society for the Promotion of Science (22KK0113 to SO), and the Practical Research Project for Rare/Intractable Diseases from Japan Agency for Medical Research and Development, AMED (grant number: JP20ek0109480) to S.O.

Author information

Authors and Affiliations

  1. Department of Emergency and Critical Care Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan

    Yoshiko Kida & Nobuaki Shime

  2. Department of Pediatrics, Graduate School of Biomedical and Health Science, Hiroshima University, 1-2-3 Kasumi, Minami-Ku, Hiroshima-Shi, Hiroshima, 734-8551, Japan

    Takehiko Doi, Yusuke Imanaka & Satoshi Okada

  3. Department of Pathology, Graduate School of Biomedical and Health Science, Hiroshima University, Hiroshima, Japan

    Vishwa Jeet Amatya

Authors
  1. Yoshiko Kida
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  2. Takehiko Doi
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  3. Yusuke Imanaka
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  4. Vishwa Jeet Amatya
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  5. Nobuaki Shime
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  6. Satoshi Okada
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Contributions

All authors contributed to the accrual of subjects and/or data. SO contributed to the conception and design of the study. YK and TD drafted the manuscript. YK and YI performed IFN-α production experiment. YK, TD, VJA, and NS performed the clinical work and collected data. All authors have revised the manuscript for important intellectual content and approved the final version.

Corresponding author

Correspondence to Takehiko Doi.

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Ethics Statement

The study was approved by the Ethics Committees and Institutional Review Board of Hiroshima University. All experiments were carried out with adherence to the Declaration of Helsinki. Written informed consent was obtained from the patient’s family.

Consent to Participate

Informed consent was obtained from the guardians of the pediatric patients.

Consent for Publication

Informed consent was obtained from the guardians of the pediatric patients for publication of this case report and accompanying images.

Conflict of Interest

The authors declare no competing interests.

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Kida, Y., Doi, T., Imanaka, Y. et al. Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH1. J Clin Immunol 43, 1143–1146 (2023). https://doi.org/10.1007/s10875-023-01494-8

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  • DOI: https://doi.org/10.1007/s10875-023-01494-8

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