Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review

Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review

BackgroundSphingosine phosphate lyase insufficiency syndrome (SPLIS) is associated with biallelic variants in SGPL1, comprising a multisystemic disease characterized by steroid resistant nephrotic syndrome, primary adrenal insufficiency, neurological problems, skin abnormalities and immunodeficiency...

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Bibliographic Details
Main Authors: Adriel Roa-Bautista, Mahreen Sohail, Emma Wakeling, Kimberly C. Gilmour, Mark Davis, Anthony Gait, Giovanna Lucchini, David Cox, Reem Elfeky, Maaike Kusters
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Immunology
Subjects:
case report
ichthyosis
lymphopenia
steroid-resistant nephrotic syndrome (SRNS)
SGPL1 gene mutation
STAT1
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2023.1186575/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2023.1186575/full

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