A5039373744- Immunodeficiency and Autoimmune Disorders
- dental development and anomalies
- T-cell and B-cell Immunology
- Oral and Maxillofacial Pathology
- Immune Cell Function and Interaction
- Chronic Lymphocytic Leukemia Research
- Systemic Sclerosis and Related Diseases
- Monoclonal and Polyclonal Antibodies Research
- Dermatologic Treatments and Research
- Bone and Dental Protein Studies
- Systemic Lupus Erythematosus Research
- Alzheimer's disease research and treatments
- Salivary Gland Disorders and Functions
- Autoimmune Bullous Skin Diseases
- Immune Response and Inflammation
- Oral and gingival health research
- Cleft Lip and Palate Research
- Calcium signaling and nucleotide metabolism
- Lymphoma Diagnosis and Treatment
- interferon and immune responses
- Oral and Craniofacial Lesions
- Vibrio bacteria research studies
- PI3K/AKT/mTOR signaling in cancer
- Immune responses and vaccinations
- Prion Diseases and Protein Misfolding
Université de Strasbourg
2015-2024
Hôpitaux Universitaires de Strasbourg
2015-2024
Inserm
2019-2024
University of Freiburg
2016-2022
Regenerative NanoMedicine
2021
Immuno-Rhumathologie moléculaire
2016-2020
Fédération Hospitalo-Universitaire, Paris Center for Microbiome Medicine
2019
Centre National de la Recherche Scientifique
2011-2019
Institut de Biologie Moléculaire et Cellulaire
2011-2019
Maastricht University
2019
<h3>Background</h3> Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number genes implicated these disorders, establishing molecular diagnosis be challenging. We aimed develop targeted next-generation sequencing (NGS) assay diagnose mutations potentially identify novel mutated this group disorders. <h3>Methods</h3> designed an NGS gene panel targets 585 known candidate...
In Alzheimer's disease (AD) and other tauopathies, the cytosolic protein Tau misfolds forms intracellular aggregates which accumulate within brain leading to neurodegeneration. Clinical progression is tightly linked progressive spread of pathology throughout brain, several lines evidence suggest that or "seeds" may propagate by spreading from cell in a "prion like" manner. Accordingly, blocking extracellular seeds with an antibody could be viable therapeutic approach. However, as structure...
Dental anomalies occur frequently in a number of genetic disorders and act as major signs diagnosing these disorders. We present definitions the most common dental propose classification usable diagnostic tool by dentists, clinical geneticists, other health care providers. The are part series Elements Morphology have been established after careful discussions within an international group experienced dentists geneticists. system was elaborated French collaborative network "TÊTECOU"...
B cells play a central role in systemic lupus erythematosus (SLE) pathophysiology but dysregulated pathways leading to break cell tolerance remain unclear. Since Toll-like receptor 9 (TLR9) favors the elimination of autoreactive periphery, we assessed TLR9 function SLE by analyzing responses and plasmacytoid dendritic (pDCs) isolated from healthy donors patients after stimulation with CpG, agonist. We found that without hydroxychloroquine treatment displayed defective vitro responses, as...
In this article, we focus on hypomaturation autosomal-recessive-type amelogenesis imperfecta (type IIA2) and describe 2 new causal Matrix metalloproteinase 20 ( MMP20) mutations validated in two unrelated families: a missense mutation p.T130I at the expected homozygous state, compound heterozygous having same combined with nucleotide deletion, leading to premature stop codon (p.N120fz*2). We characterized enamel structure of latter case using scanning electron microscopy analysis...
WNT10A gene encodes a canonical wingless pathway signaling molecule involved in cell fate specification as well morphogenetic patterning of the developing ectoderm, nervous system, skeleton, and tooth. In patients, mutations are responsible for ectodermal‐derived pathologies including isolated hypo‐oligodontia, tricho‐odonto‐onycho‐dermal dysplasia Schöpf‐Schulz‐Passarge syndrome ( SSPS ). Here we describe dental, ectodermal, extra‐ectodermal phenotypic features cohort 41 patients from 32...
Biallelic mutations in the human lipopolysaccharide responsive beige‐like anchor ( LRBA ) gene lead to a primary immunodeficiency known as deficiency, characterized by broad range of clinical manifestations including autoimmunity, organomegaly, hypogammaglobulinemia and recurrent infections. Considering phenotypic heterogeneity patients severity disease, our aim was assess role immune cells understand underlying pathomechanisms through study Lrba knockout −/− mouse model. LRBA‐deficient mice...
The diagnosis of Lipopolysaccharide-Responsive Beige-like-Anchor-Protein (LRBA) deficiency currently relies on gene sequencing approaches that do not support a timely diagnosis. We developed rapid, sensitive and functional test for implementation at clinical immunology laboratories. This is based the detection LRBA protein by flow cytometry in peripheral blood cells after stimulation. was assessed prospective cohort 54 healthy donors 57 patients suspected who were recruited our diagnostic...
Abstract Aim Patients with systemic sclerosis (SSc) present various clinical and radiological oral manifestations. However, precise evaluation of the features associated diffuse cutaneous SSc (dcSSc) limited (lcSSc) is limited. The objective this study was to evaluate periodontal ligament (PDL) surface in patients comparison controls. Assessment oral‐health‐related quality life (OHRQoL) levels different biomarkers gingival crevicular fluid (GCF) performed. Materials Methods matched controls...
The mandibular bifurcation cyst is an uncommon lesion that was first described by Stoneman and Worth in 1983. It a site age-specific affecting the or second permanent molar children between 6 13 years old. Even if clinical radiological signs are well defined, this can be misdiagnosed particular with forms which would have spontaneous resolution. patient care less range of treatments being rather wide, from simple follow-up to extraction involved tooth. Both two cases presented will...
The links between infections and the development of B-cell-mediated autoimmune diseases are still unclear. In particular, it has been suggested that infection-induced stimulation innate immune sensors can engage low affinity autoreactive B lymphocytes to mature produce mutated IgG pathogenic autoantibodies. To test this hypothesis, we established a new knock-in mouse model in which cells could be committed an maturation process. We show chronic bacterial infection allows activation such...
Background: While evidence accumulates for a role of epigenetic modifications in the pathophysiological cascade Alzheimer’s disease (AD), amyloid-β (Aβ)-targeted active immunotherapy approaches are under investigation to prevent or slow progression AD. The impact Aβ vaccines on markers has not been studied thus far. Objective: current study aims establish relationship between with MER5101-based vaccine (consisting Aβ1-15 copies conjugated 7 aa spacer diphtheria toxoid carrier protein,...
Introduction : Le défaut primaire d’éruption désigne l'échec de l'éruption d’une dent permanente postérieure non ankylosée en l'absence d'une obstruction d’origine mécanique. Une anomalie des processus biologiques l’éruption dentaire, génétique, constitue le mécanisme étiologique. Elle est la conséquence mutation du gène codant pour récepteur l’hormone parathyroïdienne PTHR-1. Observation cas rapporté décrit un dans cadre fratrie deux enfants. Les manifestations cliniques sont une...
Background: Dentists have a high risk of developing occupational allergies due to their repeated exposure many professional allergens. The aim this cross-sectional study was assess occupation-related in group French dentists and determine the main associated factors. Methods: A self-administered questionnaire about allergies, particularly published online private dedicated dentists. Results: Data from 584 were collected; 50.3% respondents presented 13.4% allergies. Regarding allergens,...
Context Disseminated infections due to Mycobacterium bovis Bacillus Calmette-Guérin (BCG) are unusual and occur mostly in patients with inborn error of immunity (IEI) or acquired immunodeficiency. However, cases secondary BCGosis intravesical BCG instillation have been described. Herein, we present a case severe occurring an situation. Case Description We report one disseminated disease after hematological malignancy 48-year-old man without previously vaccinated infancy no complication....
Inositol 1,4,5-trisphosphate (IP3) receptor type 1 ( ITPR1 ), 2 ITPR2 and 3 ITPR3 ) encode the IP3 (IP3R), a key player in intracellular calcium release. In four unrelated patients, we report that an identical de novo variant—NM_002224.3:c.7570C>T, p.Arg2524Cys—causes, through dominant-negative effect, complex multisystemic disorder with immunodeficiency. This leads to defective homeostasis, mitochondrial malfunction, CD4 + lymphopenia, quasi-absence of naïve CD8 cells, increase memory...