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Deforming Polyarthritis in a North Indian Family—Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI)

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Acknowledgments

Thanks are due to Shalini N. Jhangiani, Zeynep H. Coban-Akdemir, and Haowei Du from the Baylor College of Medicine Human Genome Sequencing Center and Baylor-Hopkins Center for Mendelian Genomics for the whole exome sequencing and bioinformatics support and Anaid Reyes from the Texas Children’s Hospital Section of Immunology, Allergy, and Retrovirology for the administrative support.

Funding

This work was supported by National Institutes of Health (NIH-NHGRI/NHLBI UM1 HG006542) (to the Baylor-Hopkins Center for Mendelian Genomics).

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Authors and Affiliations

  1. Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and research, Chandigarh, India

    Gummadi Anjani, Ankur Kumar Jindal, Ashwini Prithvi, Anit Kaur, Amit Rawat, Madhubala Sharma & Surjit Singh

  2. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

    Bo Yuan

  3. Baylor Genetics Laboratory, Houston, TX, USA

    Bo Yuan

  4. Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA

    Ivan K. Chinn

  5. Section of Immunology, Allergy, and Retrovirology, Texas Children’s Hospital, Houston, TX, USA

    Ivan K. Chinn

  6. William T. Shearer Center for Human Immunobiology, Texas Children’s Hospital, Houston, TX, USA

    Ivan K. Chinn

Authors
  1. Gummadi Anjani
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  2. Ankur Kumar Jindal
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  3. Ashwini Prithvi
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  4. Anit Kaur
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  5. Amit Rawat
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  6. Madhubala Sharma
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  7. Bo Yuan
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  8. Ivan K. Chinn
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  9. Surjit Singh
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Contributions

GA, AJ: Patient management, concept of the manuscript, critical review of manuscript for important intellectual content, and final approval of the version to be published

AP: Patient management, concept and draft of manuscript

AK, AR, MS: laboratory support

BY, IC: Genetic analysis by whole exome sequencing

SS: Patient management, important intellectual content, and final approval of the version to be published

Corresponding author

Correspondence to Ankur Kumar Jindal.

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Conflict of Interest

The authors declare that they have no conflict of interest.

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Electronic Supplementary Material

Supplementary Figure 1

Clinical photograph of index patient (P1) shows reduced mouth opening (A) and retrognathia (B) (JPG 147 kb)

Supplementary Figure 2

Sanger sequencing showing a heterozygous missense mutation in the exon 5 of STING1 gene (hg19; NM_198282) in the index patient (P1), brother of index patient (P2) and father of index patient (P3) (Chr5:138860432C>T: exon5:c.463G>A:p.V155M) (JPG 147 kb)

Supplementary Table 1

Summary of clinical and laboratory investigations in the index patient and family members (DOCX 23 kb)

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Anjani, G., Jindal, A.K., Prithvi, A. et al. Deforming Polyarthritis in a North Indian Family—Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI). J Clin Immunol 41, 209–211 (2021). https://doi.org/10.1007/s10875-020-00872-w

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  • DOI: https://doi.org/10.1007/s10875-020-00872-w

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