The aim of this project is to start a biological and clinical collection of patients presenting autoimmune, dysimmune or auto-inflammatory dermatological diseases. This collection will provide appropriate biological samples to identify new biomarkers and to be accessible to the medical, scientific and industrial communities for the identification of new therapeutic strategies.
Autoimmune diseases include around a hundred different clinical entities which are for the most part rare pathologies but which, in combination, concern 5-8% of the adult population with a strong female predominance (FAI²R: the disease chain rare autoimmune and auto-inflammatory drugs, fai2r.org). The common denominator of all these diseases is based on the breakdown of self-tolerance which is the origin of self-reactivity and whose physiopathological mechanisms are still not fully understood, which generates numerous cross-sectional or fundamental studies. In addition to this complexity, there are significant inter-individual variabilities which lead to the definition of subgroups of patients on the basis of the clinical-biological profile and / or the response to treatments. Consequently, and in view of the need to establish the diagnosis early and then to propose the best treatment in the perspective of an individualized medicine, the clinical, biological and genetic characteristics of these subgroups of patients must be explored in order to improve diagnostic and therapeutic capacities.
Study Type
OBSERVATIONAL
Enrollment
800
Blood will be taken in larger quantity
blood, CSF, saliva, stools, urine, other biological fluids and tissue biopsies, hair follicles
University Hospital
Toulouse, France
RECRUITINGBuilding a collection of biological samples and clinical-biological data from patients with autoimmune, dysimmune or auto-inflammatory dermatological disease
Blood sampling
Time frame: Day 0 and through study completion, an average of 1 year
Identification of new autoantibodies
Western blot or immunoprecipitation method
Time frame: Day 0 and through study completion, an average of 1 year
Identification of biomarkers regarding the severity (such as cytokines, survival factors) in order to help the therapeutic decisions
Proteomic analysis of sera and plasma samples at diagnosis and during follow up
Time frame: Day 0 and through study completion, an average of 1 year
Exploration of the pathophysiological mechanisms of rare autoimmune dermatological pathologies
Knock-out or knock-in animal models for one specific protein will be used to determine in vivo if the pathophysiological mechanisms of Dermatological Diseases can be induced by the abnormal expression of this protein. Analysis of the phenotypic profiling of blood immune cells by multicolor fluorescence-activated cell sorter (FACS) analysis and of the transcriptomic profiling of blood immune cells by RNA sequencing
Time frame: Day 0 and through study completion, an average of 1 year
Comparison of blood cells populations determinants with flow cytometry, before and after cell therapy and in patients responder or not responder to cell therapy
Exploring blood cell populations before and after cell therapy with flow cytometry
Time frame: Day 0 and through study completion, an average of 1 year
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