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Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant

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Availability of Data and Materials

All data generated or analyzed during this study are included in this published article (and its supplementary information files).

Funding

This work was supported by the Shanghai Key Laboratory of Birth Defects (13DZ2260600) and Research projects of the Shanghai Municipal Health and family planning committee (20194Y0256).

Author information

Author notes

  1. Ping Zhang and Wenjing Ying contributed equally to this work.

Authors and Affiliations

  1. Center for Molecular Medicine, Pediatrics Research Institute, Children’s Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China

    Ping Zhang, Bingbing Wu, Renchao Liu, Huijun Wang & Yulan Lu

  2. Department of Allergy and Clinical Immunology, Children’s Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China

    Wenjing Ying & Xiaochuan Wang

Authors
  1. Ping Zhang
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  2. Wenjing Ying
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  3. Bingbing Wu
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  4. Renchao Liu
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  5. Huijun Wang
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  6. Xiaochuan Wang
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  7. Yulan Lu
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Contributions

YL and XW conceived the analysis. PZ and WY drafted the manuscript and performed the sequencing analysis. BW and HW reviewed the genetic testing results. RL and PZ performed the validation experiments. WY and XW performed the clinical diagnosis. All authors read and approved the final manuscript.

Corresponding authors

Correspondence to Xiaochuan Wang or Yulan Lu.

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Conflict of Interest

The authors declare that they have no conflict of interest.

Ethical Approval

The study received approval from the ethics committees of the Children’s Hospital, Fudan University (2016-235).

Consent to Participate

Pretest counseling was performed by the physician. Participant’s consent was obtained from the parents of the patient.

Consent to Publish

Publication consent was obtained from the parents of the patient.

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Zhang, P., Ying, W., Wu, B. et al. Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant. J Clin Immunol 41, 834–836 (2021). https://doi.org/10.1007/s10875-021-00970-3

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  • DOI: https://doi.org/10.1007/s10875-021-00970-3

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