A5006744374- Antifungal resistance and susceptibility
- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Salmonella and Campylobacter epidemiology
- Escherichia coli research studies
- Immune Response and Inflammation
- Bacterial Infections and Vaccines
- Vibrio bacteria research studies
- RNA Research and Splicing
- Epigenetics and DNA Methylation
- Fungal Infections and Studies
- MicroRNA in disease regulation
- Cancer-related Molecular Pathways
- Cytokine Signaling Pathways and Interactions
- Viral-associated cancers and disorders
- Neuroinflammation and Neurodegeneration Mechanisms
- Genomics and Rare Diseases
- Helicobacter pylori-related gastroenterology studies
- Genetics and Neurodevelopmental Disorders
- Cell Adhesion Molecules Research
- Parkinson's Disease Mechanisms and Treatments
- Neurogenesis and neuroplasticity mechanisms
- NF-κB Signaling Pathways
- Whipple's Disease and Interleukins
- Platelet Disorders and Treatments
McGill University
2010-2024
McGill University Health Centre
2015-2019
Infectious Disease Consultants
2014
Of the over 250 Aspergillus species, fumigatus accounts for up to 80% of invasive human infections. A. produces galactosaminogalactan (GAG), an exopolysaccharide composed galactose and N-acetyl-galactosamine (GalNAc) that mediates adherence is required full virulence. Less pathogenic species were found produce GAG with a lower GalNAc content than expressed minimal amounts cell wall-bound GAG. Increasing minimally nidulans, either through overexpression nidulans epimerase UgeB or by...
We demonstrate autosomal-recessive Caspase Recruitment Domain-containing protein 9 (CARD9) deficiency in a patient with relapsing C. albicans meningoencephalitis. identified novel, hypomorphic mutation intact Th17 responses, but impaired GM-CSF responses. report complete clinical remission adjunctive therapy, suggesting that CARD9/GM-CSF axis contributes to susceptibility candidiasis.
Primary immunodeficiencies represent naturally occurring experimental models to decipher human immunobiology. We report a patient with combined immunodeficiency, marked by recurrent respiratory tract and DNA-based viral infections, hypogammaglobulinemia, panlymphopenia. He also developed moderate neutropenia but without prototypical pyogenic infections. Using whole-exome sequencing, we identified homozygous mutation in the inducible T cell costimulator ligand gene (ICOSLG; c.657C>G;...
The quaking viable (qk(v)) mice represent an animal model of dysmyelination. absence expression the QKI-6 and QKI-7 cytoplasmic isoforms in oligodendrocytes (OLs) during CNS myelination causes qk(v) mouse phenotype. QKI RNA-binding proteins are known to regulate RNA metabolism cell cycle myelin components OLs; however, little is their role reorganizing cytoskeleton or process outgrowth OL maturation differentiation. Here, we identify actin-interacting protein (AIP)-1 mRNA as a target by...
Abstract Caspase Recruitment Domain Family Member 9 (CARD9) is an adaptor molecule that drives antifungal activity of macrophages and neutrophils in the skin. Autosomal recessive loss‐of‐function mutations CARD9 confer increased susceptibility to invasive disease with select fungi non‐immunosuppressed patients. We report on a patient X‐linked ichthyosis complicated by chronic cutaneous dermatophyte infection. identified previously reported c.271T>C (p.Y91H) mutation novel intronic...
Summary CARD 9 deficiency ( CANDF 2; OMIM # 212050) is an autosomal‐recessive monogenic inborn error of immunity conferring susceptibility to invasive fungal diseases, including the very distinct syndrome spontaneous central nervous system candidiasis, in which opportunistic yeast genus Candida infect (either brain parenchyma and/or meninges) absence trauma, chemotherapy or underlying systemic disease. We present a patient with endophthalmitis right eye due albicans ; further investigations...
Abstract Parkinson’s disease (PD) is a chronic neurodegenerative disorder characterized by progressive loss of motor function. Diagnosis occurs late: after symptom development downstream the irreparable large proportion dopaminergic neurons in substantia nigra brain. Understanding PD pathophysiology its pre-motor prodromal phase needed for earlier diagnosis and intervention. Genetic risk factors, environmental triggers, dysregulated immunity have all been implicated development. Here, we...
The qk(v) mutation is a one megabase deletion resulting in abnormal expression of the qkI gene. mice exhibit hypomyelination central nervous system and display rapid tremors seizures as adults. locus on 6q26-27 has also been implicated candidate tumor suppressor gene maps to region genetic instability Glioblastoma Multiforme (GBM), an aggressive brain astrocytic lineage. As GBM frequently harbors mutations affecting p53, we crossbred p53 mutant examine whether p53(-/-) background have...
Relapse occurs in 10–40% of Burkitt lymphoma (BL) patients that have completed intensive chemotherapy regimens and is typically fatal. While treatment-naive BL has been characterized, the genomic landscape at time relapse (rBL) never reported. Here, we present a characterization two rBL patients. The diagnostic samples had mutations common BL, including MYC CCND3. Additional were detected relapse, affecting important pathways such as NFκB (IKBKB) MEK/ERK (NRAS) signaling, glutamine...
Citrobacter rodentium is an attaching and effacing (A/E) pathogen used to model enteropathogenic enterohemorrhagic Escherichia coli infections in mice. During colonization, C. must adapt stresses the gastrointestinal tract, such as antimicrobial peptides, pH changes, bile salts. The Cpx envelope stress response (ESR) a two-component system by some bacteria remediate modulating gene expression, it necessary for pathogenesis Here, we utilized simulated colonic fluid (SCF) mimic environment,...
Abstract A growing body of research supports the hypothesis links between immune system activation and development Parkinson’s disease (PD). recent study revealed that repeated gastrointestinal infection with Citrobacter rodentium can lead to PD-like motor dysfunction in Pink1 knockout (KO) mice cell entry brain. With objective better understanding mechanisms leading attack brain this model, we evaluated such mild infections are sufficient increase blood barrier (BBB) permeability cause...
Abstract Citrobacter rodentium is an attaching and effacing (A/E) pathogen used to model enteropathogenic enterohemorrhagic Escherichia coli infections in mice. During colonization, C. must adapt stresses the gastrointestinal tract such as antimicrobial peptides, pH changes, bile salts. The Cpx envelope stress response (ESR) a two-component system by some bacteria remediate modulating gene expression necessary for pathogenesis Here, we utilized simulated colonic fluid (SCF) mimic environment...
Abstract Citrobacter rodentium is an attaching and effacing (A/E) pathogen used as a model for enteropathogenic enterohemorrhagic Escherichia coli infections in mice. While the host, C. must adapt to stresses gastrointestinal tract such antimicrobial peptides, pH changes, bile salts. The Cpx envelope stress response (ESR) two-component system by some bacteria remediate modulating gene expression necessary pathogenesis To investigate genes regulon that may contribute pathogenesis, RNA-Seq,...