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

BACKGROUND: Sphingosine 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 immunodeficien...

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Detalles Bibliográficos
Autores principales: Roa-Bautista, Adriel, Sohail, Mahreen, Wakeling, Emma, Gilmour, Kimberly C., Davis, Mark, Gait, Anthony, Lucchini, Giovanna, Cox, David, Elfeky, Reem, Kusters, Maaike
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10291229/
https://www.ncbi.nlm.nih.gov/pubmed/37377976
http://dx.doi.org/10.3389/fimmu.2023.1186575

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10291229/
https://www.ncbi.nlm.nih.gov/pubmed/37377976
http://dx.doi.org/10.3389/fimmu.2023.1186575

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