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SGPL1 Deficiency: Nephrotic Syndrome with Lymphopenia.

作者信息

Tran Paulina, Jamee Mahnaz, Pournasiri Zahra, Chavoshzadeh Zahra, Sullivan Kathleen E

机构信息

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

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

出版信息

J Clin Immunol. 2023 Jan;43(1):72-75. doi: 10.1007/s10875-022-01348-9. Epub 2022 Sep 2.

DOI:10.1007/s10875-022-01348-9
PMID:36050428
Abstract
摘要

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引用本文的文献

1
Clinical presentation and management challenges of sphingosine-1-phosphate lyase insufficiency syndrome associated with an SGPL1 variant: a case report.与SGPL1变异相关的鞘氨醇-1-磷酸裂解酶缺乏综合征的临床表现及管理挑战：一例报告
BMC Pediatr. 2025 Jan 4;25(1):1. doi: 10.1186/s12887-024-05311-y.
2
Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.全球及特定人群中鞘氨醇磷酸裂解酶缺乏综合征的患病率估计
Genet Med Open. 2023 Oct 30;2:100840. doi: 10.1016/j.gimo.2023.100840. eCollection 2024.
3
Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.
影响鞘氨醇磷酸酶缺乏症综合征患者生存的因素：76 例回顾性横断面自然史研究。
Orphanet J Rare Dis. 2024 Sep 27;19(1):355. doi: 10.1186/s13023-024-03311-w.
4
Combined novel homozygous variants in both and STAT presenting with severe combined immune deficiency: case report and literature review.同时携带 和 STAT 基因新型纯合变异导致严重联合免疫缺陷：病例报告及文献复习。
Front Immunol. 2023 Jun 12;14:1186575. doi: 10.3389/fimmu.2023.1186575. eCollection 2023.