SGPL1 Deficiency: Nephrotic Syndrome with Lymphopenia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-022-01348-9.pdf
Reference6 articles.
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.
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.
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.
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.
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1. Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome: A Retrospective Cross-Sectional Study of 76 Patients;2024-02-07
2. Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations;Genetics in Medicine Open;2024
3. Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review;Frontiers in Immunology;2023-06-12
4. Structure and function of mammalian sphingolipids in health and disease;Cellular Lipid in Health and Disease;2023
5. Sphingosine phosphate lyase insufficiency syndrome: a systematic review;World Journal of Pediatrics;2022-11-12
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