Skip to main content

Advertisement

SpringerLink
Log in

SGPL1 Deficiency: Nephrotic Syndrome with Lymphopenia

  • Letter to Editor
  • Published:
Journal of Clinical Immunology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Data Availability

Data sharing not applicable to this article as no datasets were generated or analyzed during the current study.

References

  1. Saba JD, Keller N, Wang JY, et al. Genotype/phenotype interactions and first steps toward targeted therapy for sphingosine phosphate lyase insufficiency syndrome. Cell Biochem Biophys. 2021;79:547–59. https://doi.org/10.1007/s12013-021-01013-9.

    Article  CAS  Google Scholar 

  2. Prasad R, Hadjidemetriou I, Maharaj A, et al. Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. J Clin Invest. 2017;127(3):942–953. https://doi.org/10.1172/JCI90171

  3. Lovric S, Goncalves S, Gee HY, et al. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest. 2017;127(3):912–28. https://doi.org/10.1172/JCI89626.

    Article  Google Scholar 

  4. Zamora-Pineda J, Kumar A, Suh JH, Zhang M, Saba JD. Dendritic cell sphingosine-1-phosphate lyase regulates thymic egress. J Exp Med. 2016;213(12):2773–91. https://doi.org/10.1084/jem.20160287.

    Article  CAS  Google Scholar 

  5. Jyonouchi S, Jongco AM, Puck J, Sullivan KE. Immunodeficiencies associated with abnormal newborn screening for T cell and B cell lymphopenia. J Clin Immunol. 2017;37(4):363–74. https://doi.org/10.1007/s10875-017-0388-4.

    Article  Google Scholar 

  6. Vogel P, Donoviel MS, Read R, et al. Incomplete inhibition of sphingosine 1-phosphate lyase modulates immune system function yet prevents early lethality and non-lymphoid lesions. PLoS One. 2009;4(1):e4112. https://doi.org/10.1371/journal.pone.00041126.

    Article  Google Scholar 

Download references

Acknowledgements

We thank Professor Sophie Hambleton and her professional team at Newcastle University for their assistance with genetic analyses.

Funding

The authors declare that no funds, grants, or other support were received during the preparation of this manuscript.

Author information

Authors and Affiliations

  1. Department of Pediatrics, Allergy Immunology Division, Children’s Hospital of Philadelphia, Philadelphia, USA

    Paulina Tran & Kathleen E. Sullivan

  2. Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA

    Paulina Tran & Kathleen E. Sullivan

  3. Pediatric Nephrology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Mahnaz Jamee & Zahra Pournasiri

  4. Immunology and Allergy Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Mahnaz Jamee & Zahra Chavoshzadeh

Authors
  1. Paulina Tran
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Mahnaz Jamee
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Zahra Pournasiri
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Zahra Chavoshzadeh
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Kathleen E. Sullivan
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

The first draft of the manuscript was written by PT, and all authors commented on previous versions of the manuscript. The data collection was performed by MJ. KS and MJ assisted in writing the manuscript. The authors read and approved the final manuscript.

Corresponding author

Correspondence to Paulina Tran.

Ethics declarations

Ethics Approval

Not applicable.

Consent to Participate

Not applicable.

Consent for Publication

Informed consent for publication was obtained from the parents.

Conflict of Interest

The authors declare they have no conflict of interest.

Consortia Authorship

Paulina Tran DO; Mahnaz Jamee, MD; Daniella Levy-Erez MD (Division of Nephrology, Children’s Hospital of Philadelphia; Schneider Children’s Medical Center, Institute of Nephrology; Perelman School of Medicine at the Univeristy of Pennsylvania); Zahra Pournasiri, MD; Zahra Chavoshzadeh, MD; Kathleen E. Sullivan MD PhD.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (DOCX 681 KB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Tran, P., Jamee, M., Pournasiri, Z. et al. SGPL1 Deficiency: Nephrotic Syndrome with Lymphopenia. J Clin Immunol 43, 72–75 (2023). https://doi.org/10.1007/s10875-022-01348-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10875-022-01348-9

Search

Navigation