Cargando…

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...

Descripción completa

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

Ejemplares similares

Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction
por: Maharaj, A., et al.
Publicado: (2020)

Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1
por: Linhares, Natália Duarte, et al.
Publicado: (2018)

SGPL1 stimulates VPS39 recruitment to the mitochondria in MICU1 deficient cells
por: Jackson, Joshua, et al.
Publicado: (2022)

Mouse Liver Compensates Loss of Sgpl1 by Secretion of Sphingolipids into Blood and Bile
por: Spohner, Anna Katharina, et al.
Publicado: (2021)

SGPL1 (sphingosine phosphate lyase 1) modulates neuronal autophagy via phosphatidylethanolamine production
por: Mitroi, Daniel N., et al.
Publicado: (2017)

SGPL1(321) mutation: one main trigger for invasiveness of pediatric alveolar rhabdomyosarcoma
por: Adamus, Anna, et al.
Publicado: (2019)

Synergistic Action of Genistein and Calcitriol in Immature Osteosarcoma MG-63 Cells by SGPL1 Up-Regulation
por: Engel, Nadja, et al.
Publicado: (2017)

Nuclear Translocation of SGPP-1 and Decrease of SGPL-1 Activity Contribute to Sphingolipid Rheostat Regulation of Inflammatory Dendritic Cells
por: Schwiebs, Anja, et al.
Publicado: (2017)

First evidence of SGPL1 expression in the cell membrane silencing the extracellular S1P siren in mammary epithelial cells
por: Engel, Nadja, et al.
Publicado: (2018)

Efficacy of AAV9-mediated SGPL1 gene transfer in a mouse model of S1P lyase insufficiency syndrome
por: Zhao, Piming, et al.
Publicado: (2021)

Ginsenoside Rg1 exerts anti-apoptotic effects on non-alcoholic fatty liver cells by downregulating the expression of SGPL1
por: Li, Guiming, et al.
Publicado: (2022)

Tumor suppressor miR-449a inhibits the development of gastric cancer via down-regulation of SGPL1
por: Chen, Qian, et al.
Publicado: (2018)

Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature review
por: Yang, Siying, et al.
Publicado: (2023)

Sgpl1 deletion elevates S1P levels, contributing to NPR2 inactivity and p21 expression that block germ cell development
por: Yuan, Feifei, et al.
Publicado: (2021)

Aberrant expression of the S1P regulating enzymes, SPHK1 and SGPL1, contributes to a migratory phenotype in OSCC mediated through S1PR2
por: Patmanathan, Sathya Narayanan, et al.
Publicado: (2016)

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency
por: Almatrafi, Ahmed M., et al.
Publicado: (2023)

A Murine Point Mutation of Sgpl1 Skin Is Enriched With Vγ6 IL17-Producing Cell and Revealed With Hyperpigmentation After Imiquimod Treatment
por: Yang, Wenyi, et al.
Publicado: (2022)

S1P Released by SGPL1-Deficient Astrocytes Enhances Astrocytic ATP Production via S1PR(2,4), Thus Keeping Autophagy in Check: Potential Consequences for Brain Health
por: Alam, Shah, et al.
Publicado: (2023)

Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes
por: Derenbecker, Robert, et al.
Publicado: (2019)

Non-osteopenic Bone Pathology After Allo-hematopoietic Stem Cell Transplantation in Patients with Inborn Errors of Immunity
por: Golwala, Zainab M., et al.
Publicado: (2023)

Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A
por: Gupta, Swati, et al.
Publicado: (2016)

Combined choroidal neovascularization and hypopituitarism in a patient with homozygous mutation in methylenetetrahydrofolate reductase gene
por: Aydogdu, Aydogan, et al.
Publicado: (2014)

A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency
por: Qin, Tao, et al.
Publicado: (2021)

Aryl hydrocarbon receptor in combination with Stat1 regulates LPS-induced inflammatory responses
por: Kimura, Akihiro, et al.
Publicado: (2009)

Combining radiotherapy with MEK1/2, STAT5 or STAT6 inhibition reduces survival of head and neck cancer lines
por: Stegeman, Hanneke, et al.
Publicado: (2013)

Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2
por: Zhu, Gaofeng, et al.
Publicado: (2023)

Case Report: Cardiac Surgery and Combined Lipid-Lowering Drug Therapy for Homozygous Familial Hypercholesterolemia
por: Gao, Mingxin, et al.
Publicado: (2020)

Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
por: Smith, Thomas B., et al.
Publicado: (2023)

Both STAT1 and STAT3 are favourable prognostic determinants in colorectal carcinoma
por: Gordziel, C, et al.
Publicado: (2013)

El estudio de la agresión, desde una perspectiva fisiológica, psicoanalítica y conductual
por: Bautista Sánchez, Asael Adriel
Publicado: (1988)

Deletion in the BCL11B Gene and Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-cell Abnormalities – a Case Report
por: Roa-Bautista, Adriel, et al.
Publicado: (2022)

Cone Dystrophy in Patient with Homozygous RP1L1 Mutation
por: Kikuchi, Sachiko, et al.
Publicado: (2015)

A combined ANXA2-NDRG1-STAT1 gene signature predicts response to chemoradiotherapy in cervical cancer
por: Buttarelli, Marianna, et al.
Publicado: (2019)

Clinical significance of CDKN2A homozygous deletion in combination with methylated MGMT status for IDH‐wildtype glioblastoma
por: Funakoshi, Yusuke, et al.
Publicado: (2021)

A Combination of Receptor-Based Pharmacophore Modeling & QM Techniques for Identification of Human Chymase Inhibitors
por: Arooj, Mahreen, et al.
Publicado: (2013)

Homozygous Factor V Leiden Complicated by Heparin-Induced Thrombocytopenia: A Case Report
por: Bautista Sanchez, Rocio, et al.
Publicado: (2022)

Homozygous deletion of both GSTM1 and GSTT1 genes is associated with higher CD4(+) T cell counts in Ghanaian HIV patients
por: Kuleape, Joshua Agbemefa, et al.
Publicado: (2018)

Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene
por: Wang, Jie, et al.
Publicado: (2020)

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood
por: Lewis-Smith, David, et al.
Publicado: (2016)

Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation
por: Yasuda, Rei, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_7b6a0h2m3r2dmucrglsc6q6v22