A5016950254- Asthma and respiratory diseases
- Mycobacterium research and diagnosis
- Genetic Associations and Epidemiology
- Immunodeficiency and Autoimmune Disorders
- Parasites and Host Interactions
- Allergic Rhinitis and Sensitization
- Tuberculosis Research and Epidemiology
- Leprosy Research and Treatment
- T-cell and B-cell Immunology
- Eosinophilic Disorders and Syndromes
- Malaria Research and Control
- Research on Leishmaniasis Studies
- IL-33, ST2, and ILC Pathways
- Neonatal Respiratory Health Research
- Trypanosoma species research and implications
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Eosinophilic Esophagitis
- Immune Cell Function and Interaction
- Helicobacter pylori-related gastroenterology studies
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Biomedical Text Mining and Ontologies
- Complement system in diseases
- Pediatric health and respiratory diseases
- Immune Response and Inflammation
- S100 Proteins and Annexins
McGill University
2016-2023
McGill University Health Centre
2023
Edwards (United Kingdom)
2022
Inserm
2008-2016
Université Paris Cité
2008-2016
Institut de Génétique Humaine
2012-2016
Institut Pasteur
2015-2016
Institut des Maladies Génétiques Imagine
2013-2016
Institut Necker Enfants Malades
2015
Human Genetic of Infectious Diseases
2008-2014
Tuberculosis Vaccine Conundrum Some children experience severe clinical disease when they are vaccinated against tuberculosis, an attenuated live vaccine that is normally innocuous in humans. Several germline mutations have been identified account for this susceptibility, and now Bogunovic et al. (p. 1684 , published online 2 August) add another to the list— ISG15 . Uncovering mutation, which inherited autosomal recessive manner, was a surprise because studies with mice deficient showed...
Although the pathogenic and genetic basis of acute lung injury (ALI) remains incompletely understood, identification novel ALI biomarkers holds promise for unique insights. Expression profiling in animal models (canine murine) human detected significant expression pre-B-cell colony-enhancing factor (PBEF), a gene not previously associated with pathophysiology. These results were validated by real-time polymerase chain reaction immunohistochemistry studies, PBEF protein levels significantly...
Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families four different ethnic groups. These were homozygous for one null mutations, that seen P1. They displayed mycobacterial and/or infections, but no HIES. All eight impaired...
The transition from acute to chronic pain is critically important but not well understood. Here, we investigated the pathophysiological mechanisms underlying low back (LBP) and performed transcriptome-wide analysis in peripheral immune cells of 98 participants with LBP, followed for 3 months. Transcriptomic changes were compared between patients whose LBP was resolved at months those persisted. We found thousands dynamic transcriptional over none persistent pain. Transient neutrophil-driven...
Interpatient variability in montelukast response may be related to variation leukotriene pathway candidate genes.To determine associations between polymorphisms genes with outcomes patients asthma receiving for 6 mo who participated a clinical trial.Polymorphisms were typed using Sequenom matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass array spectrometry and published methods; haplotypes imputed single nucleotide polymorphism-expectation maximization (SNP-EM)....
Background and Objectives In the last decade, autosomal recessive IL-12Rβ1 deficiency has been diagnosed in four children with severe tuberculosis from three unrelated families Morocco, Spain, Turkey, providing proof-of-principle that otherwise healthy may result single-gene inborn errors of immunity. We aimed to estimate fraction developing due areas endemic for where parental consanguinity is common. Methods Principal Findings searched IL12RB1 mutations a series 50 Iran, Turkey. All had...
The genetic basis of acute lung injury (ALI) is poorly understood. myosin light chain kinase (MYLK) gene encodes the nonmuscle isoform, a multifunctional protein involved in inflammatory response (apoptosis, vascular permeability, leukocyte diapedesis). To examine MYLK as novel candidate sepsis-associated ALI, we sequenced exons, exon-intron boundaries, and 2 kb 5' UTR MYLK, which revealed 51 single-nucleotide polymorphisms (SNPs). Potential association 28 SNPs with ALI were evaluated...
Abstract Objective Protein citrullination is an important posttranslational modification recognized by rheumatoid arthritis (RA)–specific autoantibodies. One of the citrullinating enzymes, peptidyl arginine deiminase type 4 (PAD‐4), genetically associated with development RA in some populations, although mechanism(s) mediating this effect are not yet clear. There have been descriptions anti–PAD‐4 autoantibodies different rheumatic diseases. This study was undertaken to investigate whether...
Rhinoscleroma (RS) is a rare, chronic, granulomatous disease of the upper respiratory tract that associated with infection Klebsiella rhinoscleromatis. RS more common in certain geographic regions than others, but other risk factors and pathogenesis remain unclear.We sent standardized questionnaire to all pathologists otolaryngology specialists French University Hospitals asked whether they had seen patients previous 16 years (1990-2005). We then retrospectively reviewed files identified.We...
A genomewide association study in Chinese patients with leprosy detected signals 16 single-nucleotide polymorphisms (SNPs) belonging to 6 loci, of which 4 are related the NOD2 signaling pathway and Crohn's disease susceptibility loci. Here, we studied these SNPs as potential factors 474 Vietnamese simplex families. We replicated at HLA-DR-DQ, RIPK2, CCDC122-LACC1, Vietnam. These results validated striking overlap genetic control leprosy.
We investigated two siblings with granulomatous histiocytosis prominent in the nasal area, mimicking rhinoscleroma and Rosai-Dorfman syndrome. Genome-wide linkage analysis whole-exome sequencing identified a homozygous frameshift deletion SLC29A3, which encodes human equilibrative nucleoside transporter-3 (hENT3). Germline mutations SLC29A3 have been reported rare patients wide range of overlapping clinical features inherited disorders including H syndrome, pigmented hypertrichosis...