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Pathogenic DDOST Variant Is Associated with Humoral Immune Deficiency

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Fig. 1

Data Availability

Data generated or analysed during this study are included in this published article and its supplementary information files.

References

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Acknowledgements

We would like to acknowledge Wasantha Ranatunga, Ph.D., M.S. and Rory Olson Ph.D. for their contribution to data acquisition and analysis.

Funding

This work was funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198–01) from the National Institute of Neurological Diseases and Stroke (NINDS), the National Center for Advancing Translational Sciences (NCATS), National Institute of Child Health and Human Development (NICHD), and the Rare Disorders Consortium Disease Network (RDCRN), at the National Institute of Health.

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Authors and Affiliations

  1. Division of Allergic Diseases, Mayo Clinic, 200 First St SW, Rochester, MN, 55905, USA

    Andrea Sitek & Sergio E. Chiarella

  2. Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA

    Anna Ligezka & Eva Morava

  3. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

    Rohit Budhraja

Authors
  1. Andrea Sitek
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  2. Anna Ligezka
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  3. Rohit Budhraja
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  4. Eva Morava
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  5. Sergio E. Chiarella
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Corresponding author

Correspondence to Sergio E. Chiarella.

Ethics declarations

All authors contributed to the study conception and design. Data collection and analysis were performed by Andrea Sitek, Anna Ligezka, Sergio Chiarella, Eva Morava, and Rohit Budhraja. The first draft of the manuscript was written by Andrea Sitek and Anna Ligezka. All authors read and approved the final manuscript.

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

The patient was evaluated through the Frontier in CDG Consortium (FCDGC) natural history study (IRB: 19–005187; https://clinicaltrials.gov/ct2/show/NCT04199000?cond=CDG&draw=2&rank=4).

Conflicts of Interest

The authors declare no competing interests.

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Andrea Sitek and Anna Ligezka are co-first authors.

Supplementary Information

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Supplementary file1 (DOCX 454 KB)

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Sitek, A., Ligezka, A., Budhraja, R. et al. Pathogenic DDOST Variant Is Associated with Humoral Immune Deficiency. J Clin Immunol 43, 692–694 (2023). https://doi.org/10.1007/s10875-023-01429-3

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  • DOI: https://doi.org/10.1007/s10875-023-01429-3

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