A5035337724- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Autoimmune Bullous Skin Diseases
- Urticaria and Related Conditions
- Vitamin K Research Studies
- Complement system in diseases
- Peptidase Inhibition and Analysis
- Blood Coagulation and Thrombosis Mechanisms
- Mast cells and histamine
- Hemophilia Treatment and Research
- Monoclonal and Polyclonal Antibodies Research
- Immunodeficiency and Autoimmune Disorders
- Blood transfusion and management
- Platelet Disorders and Treatments
- Enzyme function and inhibition
- Blood groups and transfusion
- T-cell and B-cell Immunology
- Blood disorders and treatments
- Immune Response and Inflammation
- Toxin Mechanisms and Immunotoxins
- PI3K/AKT/mTOR signaling in cancer
- Cell Adhesion Molecules Research
- Inflammatory Bowel Disease
- Systemic Lupus Erythematosus Research
- Adenosine and Purinergic Signaling
- Blood donation and transfusion practices
Centre National de la Recherche Scientifique
2012-2025
Centre Hospitalier Universitaire de Grenoble
2012-2025
Université Grenoble Alpes
2014-2025
Inserm
1996-2025
Université Paris Cité
2019-2025
Institut Cochin
2016-2025
Université d'Angers
2024-2025
University of Basel
2024
Hôpital Cochin
2023-2024
Maternité Port Royal
2023
Complement is viewed as a critical serum-operative component of innate immunity, with processing its key component, C3, into activation fragments C3a and C3b confined to the extracellular space. We report here that C3 also occurred intracellularly. found T cell-expressed protease cathepsin L (CTSL) processed biologically active C3b. Resting cells contained stores endosomal lysosomal CTSL substantial amounts CTSL-generated C3a. While "tonic" intracellular generation was required for...
TUNEL (terminal deoxynucleotidyl transferase-mediated dUTP nick end-labeling) is a method of choice for rapid identification and quantification the apoptotic cell fraction in cultured preparations. However, application has been restricted to narrow spectrum sample conditions, only detergents have proposed as labeling enhancers. This study was aimed at extending variously fixed cells improving sensitivity by optimized pretreatments, specificity being assessed reference morphology. Comparative...
Abstract In macrophages, the TNF-alpha promoter is specifically induced by bacterial endotoxin, and provides a good model for gene regulation during infections. We have analyzed protein-binding characteristics enhancer activity of four kappa B-like enhancers MHC class II-like Y box found in mouse promoter. addition to members NF-kappa B/rel transcription factor family, at least two B sites also bound nuclear protein identified as NF-GMa, that binds sequences from many cytokines. When...
A new form of hereditary angioedema (HAE) with normal C1 inhibitor (C1INH) was first described in 2000. The lack clear diagnostic criteria, the heterogeneity among affected patients, and varying names given to this disease have led substantial confusion both physicians patients. This study designed bring more clarity diagnosis potential treatment HAE C1INH. An international symposium experts convened review field develop consensus opinions that could help clinicians who evaluate manage these...
Hereditary angioedema type III (HAEIII) is a rare inherited swelling disorder that associated with point mutations in the gene encoding plasma protease factor XII (FXII). Here, we demonstrate HAEIII-associated mutant FXII, derived either from HAEIII patients or recombinantly produced, defective mucin-type Thr309-linked glycosylation. Loss of glycosylation led to increased contact-mediated autoactivation zymogen resulting excessive activation bradykinin-forming kallikrein-kinin pathway. In...
Background: Hereditary angioedema (HAE) is a potentially life-threatening disorder characterized by recurrent episodes of subcutaneous or submucosal swelling.HAE with normal C1 Inhibitor (HAE-nC1-INH) an under-diagnosed condition.Although the association genetic variants has been identified for some families, causes in many patients HAE-nC1-INH remain unknown.The role genes associated bradykinin catabolism not fully understood.Objective: We investigated biological parameters and related to...
Abstract Primary C3 deficiency, a rare autosomal inherited disease (OMIM 120700), was identified in 2-year-old male suffering from recurrent pyogenic infections early infancy with undetectable total complement hemolytic activity (CH50) and values. The nonconsanguineous parents the two patients’ siblings had 50% normal serum concentration. molecular abnormality associated paternal allele coding missense mutation p.Ser550Pro an apparently null maternal allele, production of defective protein...
Hereditary angio-oedema (HAE) has been associated with C1inhibitor deficiency. The first cases of type III HAE were described in patients normal C1Inh antigenic protein level and function C4 levels 2000. This finding reported mostly women a family history may be influenced by exogenous oestrogen exposure.The purpose this article is to describe the clinical, biological genetic characteristics French population suffering from HAE.We conducted retrospective analysis (AE) seen National Reference...
To cite this article: Bygum A, Fagerberg CR, Ponard D, Monnier N, Lunardi J, Drouet C. Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency. Allergy 2011; 66: 76–84. Background: Hereditary (HAE), type I II, is an autosomal dominant disease deficiency functional protein causing episodic swellings skin, mucosa viscera. HAE a genetically heterogeneous more than 200 different mutations the SERPING1 gene. A genotype–phenotype...
Acquired angioedema (AAE) due to C1-inhibitor (C1INH) deficiency is rare. Treatment options for acute attacks are variable and used off-label. Successful treatment of the associated lymphoma with rituximab seems prevent in subjects AAE. The aim this study was describe AAE manifestations, its diseases, patients’ responses treatments a representative cohort. A retrospective nationwide conducted France. inclusion criteria were recurrent an acquired decrease functional C1INH <50% reference...
Background The kinins (primarily bradykinin, BK) represent the mediators responsible for local increase of vascular permeability in hereditary angioedema (HAE), HAE I-II associated with alterations SERPING1 gene and normal C1-Inhibitor function (HAE-nC1INH). Besides concentration, no biological assay kinin metabolism is actually available to help physicians diagnosis (AE). We describe enzymatic tests on plasma BK-dependent AE. Methods amidase assays are performed using...