Combined novel homozygous variants in both
SGPL1 gene mutation
STAT1
case report
ichthyosis
lymphopenia
steroid-resistant nephrotic syndrome (SRNS)
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2023
2023
Historique:
received:
14
03
2023
accepted:
30
05
2023
medline:
30
6
2023
pubmed:
28
6
2023
entrez:
28
6
2023
Statut:
epublish
Résumé
Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is associated with biallelic variants in We report novel homozygous SGPL We report the finding of two novel, homozygous variants in
Sections du résumé
Background
Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is associated with biallelic variants in
Case presentation
We report novel homozygous SGPL
Conclusion
We report the finding of two novel, homozygous variants in
Identifiants
pubmed: 37377976
doi: 10.3389/fimmu.2023.1186575
pmc: PMC10291229
doi:
Substances chimiques
Aldehyde-Lyases
EC 4.1.2.-
Janus Kinases
EC 2.7.10.2
SGPL1 protein, human
EC 4.1.2.27
STAT Transcription Factors
0
STAT1 protein, human
0
STAT1 Transcription Factor
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1186575Informations de copyright
Copyright © 2023 Roa-Bautista, Sohail, Wakeling, Gilmour, Davis, Gait, Lucchini, Cox, Elfeky and Kusters.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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