Nicodème Paul

ER proteostasis failure in HYOU1 deficiency alters B cells, neutrophils, and interferon signalling

Aida Idani, Sabrina Bibi‐Triki, Tristan Stemmelen, Mirjana Radosavljevic et autres

Hypoxia upregulated 1 (HYOU1) is a stress-inducible ER chaperone. We investigated 2 unrelated patients carrying biallelic HYOU1 variants and presenting with primary immunodeficiency. Patient 1, homozygous for p.Pro444His, displayed failure to thrive, hypoglycemia, B cell lymphopenia, and neutropenia. Patient 2, compound heterozygous …

fr, us, cn, ir (code pays fourni par la source)

Tenascin-C orchestrates radiotherapy-induced head and neck tumor regression

Thomas Loustau, Ioanna Mitrentsi, Nuohan Wang, Caroline Spenlé et autres

Given that head and neck squamous cell carcinoma (HNSCC) patients have poor survival outcomes, a better understanding of the therapeutic benefits of ionizing irradiation (IR), the major treatment modality besides surgery, is needed. A confounding factor is the immunosuppressive tumor microenvironment determined …

fr, de, Tunisie, fi (code pays fourni par la source)

Systemic lupus pregnancies are characterized by an intrinsic pro-inflammatory monocyte transcriptome, driven by an aberrant miRNA signature

Marc Scherlinger, Eloi Schmauch, Raphaël Carapito, Angélique Pichot et autres

Pregnancy induces profound immunological adaptations that usually promote tolerance and reduce autoimmune activity. However, women with systemic lupus erythematosus (SLE) remain at increased risk of disease flares and pregnancy complications, whereas rheumatoid arthritis (RA) often improves during gestation. To better understand this …

fr (code pays fourni par la source)

Whole‐exome sequencing in families from Lifou Island (New Caledonia) reveals candidate variants involved in gout pathogenesis

Philippe T Georgel, Yves‐Marie Ducrot, Anne Marie Molitor, Nicodème Paul et autres

Abstract Background Gout, which manifests as severe inflammation caused by excessive serum urate levels and monosodium urate deposits in the joints, is associated with multiple genomic loci in Europeans. In this exploratory work, we aimed to identify additional gene variants in Melanesian …

fr, nc (code pays fourni par la source)

A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease

Anne Marie Molitor, Alexandre Lederle, Mirjana Radosavljevic, Vinay Sapuru et autres

Inositol 1,4,5-trisphosphate (IP3) receptor type 1 ( ITPR1 ), 2 ( ITPR2 ), and 3 ( ITPR3 ) encode the IP3 receptor (IP3R), a key player in intracellular calcium release. In four unrelated patients, we report that an identical ITPR3 de novo …

fr, us, cn, Afrique du Sud, de, fi, il, co, ir (code pays fourni par la source)

POS1393 LUPUS PREGNANCIES ARE CHARACTERIZED BY A DISTINCT INFLAMMATORY TRANSCRIPTOMIC SIGNATURE PARTLY DRIVEN BY SPECIFIC MIRNA

E. Schmauch, Philippe T Georgel, Raphaël Carapito, Angélique Pichot et autres

us, fr, gb (code pays fourni par la source)

Platelets favor the outgrowth of established metastases

María Jesús García-León, Cristina Liboni, Vincent Mittelheisser, Louis Bochler et autres

Despite abundant evidence demonstrating that platelets foster metastasis, anti-platelet agents have low therapeutic potential due to the risk of hemorrhages. In addition, whether platelets can regulate metastasis at the late stages of the disease remains unknown. In this study, we subject syngeneic …

fr, fi, es (code pays fourni par la source)

Correction: An immunogenomic exome landscape of triple positive primary antiphospholipid patients

Aurélien Guffroy, Léa Jacquel, Yoann Seeleuthner, Nicodème Paul et autres

fr, us, de (code pays fourni par la source)

An immunogenomic exome landscape of triple positive primary antiphospholipid patients

Aurélien Guffroy, Léa Jacquel, Yoann Seeleuthner, Nicodème Paul et autres

fr, us, de (code pays fourni par la source)

Genetic analysis of patients with triple positive primary antiphospholipid syndrome

Aurélien Guffroy, Léa Jacquel, Yoann Seeleuthner, Nicodème Paul et autres

fr (code pays fourni par la source)

Data from Matrix-Targeting Immunotherapy Controls Tumor Growth and Spread by Switching Macrophage Phenotype

Claire Deligne, Devadarssen Murdamoothoo, Anís N. Gammage, Martha Gschwandtner et autres

Abstract The interplay between cancer cells and immune cells is a key determinant of tumor survival. Here, we uncovered how tumors exploit the immunomodulatory properties of the extracellular matrix to create a microenvironment that enables their escape from immune surveillance. Using orthotopic …

gb, cz, fr (code pays fourni par la source)

Supplementary Data from Matrix-Targeting Immunotherapy Controls Tumor Growth and Spread by Switching Macrophage Phenotype

Claire Deligne, Devadarssen Murdamoothoo, Anís N. Gammage, Martha Gschwandtner et autres

Supplementary figures and table