Publications by authors named "Marion Moreews"
Article Synopsis
- NK cells often lose their function during tumor development, but the reasons for this are not fully understood.
- In mouse lymphoma models, the activation of NK cells led to changes resembling T cell exhaustion, including the expression of immune checkpoint proteins, but dysfunction occurred only in the activated NK cell group.
- Importantly, NK cell dysfunction can be reversed by stopping the stimulation and is positively influenced by interleukin-15, indicating that the dysfunction is a dynamic and reversible process not directly linked to immune checkpoint protein expression.
Article Synopsis
- Autosomal recessive PRKCD deficiency is linked to systemic lupus erythematosus, but its specific mechanisms are not well understood.
- Researchers created a mouse model with the Prkcd G510S mutation to study the disease, which mimics human symptoms and shows a shortened lifespan.
- The study found that this mutation affects B cell activation through the PI3K/mTOR pathway, leading to autoimmune symptoms that improve with rapamycin treatment, highlighting the pathway's role in PRKCD-related autoimmunity and reduced NK cell levels contributing to viral infection susceptibility.
Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of , , or in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)-sensing OAS1 and OAS2 generate 2'-5'-linked oligoadenylates (2-5A) that activate the single-stranded RNA-degrading ribonuclease L (RNase L).
View Article and Find Full Text PDFEOMES and T-BET are related T-box transcription factors that control natural killer (NK) cell development. Here we demonstrate that EOMES and T-BET regulate largely distinct gene sets during this process. EOMES is dominantly expressed in immature NK cells and drives early lineage specification by inducing hallmark receptors and functions.
View Article and Find Full Text PDFMultiple Inflammatory Syndrome in Children (MIS-C) is a delayed and severe complication of SARS-CoV-2 infection that strikes previously healthy children. As MIS-C combines clinical features of Kawasaki disease and Toxic Shock Syndrome (TSS), we aimed to compare the immunological profile of pediatric patients with these different conditions. We analyzed blood cytokine expression, and the T cell repertoire and phenotype in 36 MIS-C cases, which were compared to 16 KD, 58 TSS, and 42 COVID-19 cases.
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- Juvenile idiopathic arthritis (JIA) is the most prevalent chronic rheumatic disease in children, and the underlying causes are still not well understood, particularly in cases with genetic factors like LACC1 mutations.
- This study investigated four families with early-onset arthritis and identified that mutations in LACC1 lead to deficiencies in macrophage autophagy, a crucial cellular process.
- The findings suggest that LACC1 plays a significant role in macrophage energy metabolism and could be linked to a new genetic type of juvenile arthritis due to its impact on autophagy functions.
Autoimmunity can occur when a checkpoint of self-tolerance fails. The study of familial autoimmune diseases can reveal pathophysiological mechanisms involved in more common autoimmune diseases. Here, by whole-exome/genome sequencing we identify heterozygous, autosomal-dominant, germline loss-of-function mutations in the SOCS1 gene in ten patients from five unrelated families with early onset autoimmune manifestations.
View Article and Find Full Text PDFBackground: Systemic lupus erythematosus (SLE) is a rare immunological disorder and genetic factors are considered important in its causation. Monogenic lupus has been associated with around 30 genotypes in humans and 60 in mice, while genome-wide association studies have identified more than 90 risk loci. We aimed to analyse the contribution of rare and predicted pathogenic gene variants in a population of unselected cases of childhood-onset SLE.
View Article and Find Full Text PDFSystemic lupus erythematosus (SLE) is a severe lifelong multisystem autoimmune disease characterized by the presence of autoantibodies targeting nuclear autoantigens, increased production of type I interferon and B cell abnormalities. Clinical presentation of SLE is extremely heterogeneous and different groups of disease are likely to exist. Recently, childhood-onset SLE (cSLE) cases have been linked to single gene mutations, defining the concept of monogenic or Mendelian lupus.
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