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Abnormal Results of Newborn Screening for SCID After Azathioprine Exposure In Utero: Benefit of TPMT Genotyping in Both Mother and Child

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Fig. 1

Data Availability

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

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References

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Acknowledgements

The authors would like to thank all those involved in the SONNET-study for their contribution to the study. A special thanks to all parents of the cases and dr. S.M.H. Timmermans for their participation and support.

Funding

The Netherlands Organisation for Health Research and Development ZonMw financed the SONNET-study (project 543002002).

Author information

Authors and Affiliations

  1. Willem-Alexander Children’s Hospital, Laboratory for Pediatric Immunology, Leiden University Medical Center, Leiden, the Netherlands

    Maartje Blom, Ingrid Pico-Knijnenburg & Mirjam van der Burg

  2. Department of Pediatric Immunology and Infectious Diseases, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, the Netherlands

    Joris M. van Montfrans

  3. Willem-Alexander Children’s Hospital, Department of Pediatrics, Division of Pediatric Immunology and Stem Cell Transplantation, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands

    Robbert G. M. Bredius & Dagmar Berghuis

  4. Department of Clinical Pharmacy & Toxicology, Leiden University Medical Center, Leiden, the Netherlands

    Jesse J. Swen

Authors
  1. Maartje Blom
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  2. Ingrid Pico-Knijnenburg
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  3. Joris M. van Montfrans
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  4. Robbert G. M. Bredius
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  5. Mirjam van der Burg
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  6. Jesse J. Swen
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  7. Dagmar Berghuis
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Contributions

MB, MvdB, and DB designed the study; IP and JS performed flow cytometric and genetic analyses; DB, RB, and JvM did the clinical evaluations of the patients; MB, IP, JS, and DB analyzed the data; DB coordinated the project; MB and DB wrote the paper; all authors contributed to and approved the final version of the manuscript.

Corresponding author

Correspondence to Dagmar Berghuis.

Ethics declarations

Ethics Approval

This study was performed in line with the principles of the Declaration of Helsinki. Approval for the SONNET-study was granted by the Medical Ethics Committee of the Erasmus MC, University Medical Center, Rotterdam (MEC-2017–1146).

Consent to Participate

In order to participate in newborn screening for SCID (SONNET-study), parents have to express verbal consent when the heel prick is performed (opt-out consent).

Consent for Publication

Parents of cases have provided consent for the publication of the data in this case report.

Conflict of Interest

The authors declare no competing interests.

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Blom, M., Pico-Knijnenburg, I., van Montfrans, J.M. et al. Abnormal Results of Newborn Screening for SCID After Azathioprine Exposure In Utero: Benefit of TPMT Genotyping in Both Mother and Child. J Clin Immunol 42, 199–202 (2022). https://doi.org/10.1007/s10875-021-01138-9

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  • DOI: https://doi.org/10.1007/s10875-021-01138-9

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