Is a Dispensable Gene for Viability but Required for Proper Interaction with the Host.

Candidemia is an opportunistic mycosis with high morbidity and mortality rates. Even though is the main causative agent, other species, such as , are relevant etiological agents of candidiasis and candidemia. Compared with , there is currently limited information about biological aspects, including those related to the cell wall and the interaction with the host.

Silencing of Reveals Its Contribution to Fungal Adhesion, Virulence, and the Host-Fungus Interaction.

is one of the etiological agents of sporotrichosis, a cutaneous and subcutaneous infection distributed worldwide. Like other medically relevant fungi, its cell wall is a molecular scaffold to display virulence factors, such as protective pigments, hydrolytic enzymes, and adhesins. Cell wall proteins with adhesive properties have been previously reported, but only a handful of them have been identified and characterized.

Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker.

This report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in , which encodes an α1,3-mannosyltransferase (EC 2.4.1.

TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.

The trafficking protein particle (TRAPP) complex is a multisubunit protein complex that functions as a tethering factor involved in intracellular trafficking. TRAPPC11, a crucial subunit of this complex, is associated with pathogenic variants that cause a spectrum of disease, which can range from a limb girdle muscular dystrophy (LGMD) to developmental disability with muscle disease, movement disorder and global developmental delay (GDD)/intellectual disability (ID), or even a congenital muscular dystrophy (CMD). We reviewed the phenotype of all reported individuals with TRAPPC11-opathies, including an additional Mexican patient with novel compound heterozygous missense variants in TRAPPC11 (c.

Contribution of -Linked Mannosylation Pathway to and Biofilm Formation.

Background: Mycoses are a growing threat to human health, and systemic candidiasis caused by and is frequent in immunocompromised patients. Biofilm formation is a virulence factor found in these organisms, as sessile cells adhere to surfaces, the stratification and production of extracellular matrix provides protection and resistance to antifungal drugs. Previous evidence indicated that the -linked mannosylation pathway is relevant to biofilms, but its contribution to other species remains unknown.

Differential Recognition of Clinically Relevant Species by Human Granulocytes.

Sporotrichosis is a cutaneous mycosis that affects humans and animals and has a worldwide distribution. This infection is mainly caused by , , and . Current research about anti- immunity has been mainly focused on and , using different types of human or animal immune cells.

Differential Recognition of , , and by Human Monocyte-Derived Macrophages and Dendritic Cells.

Background: Sporotrichosis is a mycosis frequently caused by , and . The cell wall is a species-specific fungal structure with a direct role in activating the host's immune response. The current knowledge about anti- immunity comes from studies using or and murine cells.

Uterus a novel phenotype associated with new genetic variants. A case report.

Objectives: To report the first Mexican case with two novel mutations causing primary ovarian failure, uterus , and early-onset dementia secondary to leukoencephalopathy.

Methods: Detailed clinical, clinimetric, neuroimaging features, muscle biopsy with biochemical assays of the main oxidative phosphorylation complexes activities, and molecular studies were performed on samples from a Mexican female.

Results: We present a 41-year-old female patient with learning difficulties since childhood and primary amenorrhea who developed severe cognitive, motor, and behavioral impairment in early adulthood.

Differential Recognition of Clinically Relevant Species by Human Mononuclear Cells.

Sporotrichosis is a human and animal fungal infection distributed worldwide that is caused by the thermodimorphic species of the pathogenic clade, which includes , , and . The cell wall composition and the immune response against the species have been studied mainly in and , whilst little is known about the cell wall and the immune response that its components trigger. Therefore, in this study, we aimed to analyze the cell wall composition of in three morphologies (germlings, conidia, and yeast-like cells) and the differences in cytokine production when human peripheral blood mononuclear cells (PBMCs) interact with these morphotypes, using and as a comparison.

Silencing of , the Encoding Gene of the Endoplasmic Reticulum Glucosidase II, Affects the Cell Wall and the -Host Interaction.

is a member of the pathogenic clade and one of the most common etiological agents of sporotrichosis, a subcutaneous fungal infection that affects both animal and human beings. Like other fungal pathogens, the cell wall is composed of structural polysaccharides and glycoproteins that are covalently modified with both -linked and -linked glycans. Thus far, little is known about the -linked glycosylation pathway in this organism or its contribution to cell wall composition and interaction with the host.

NK cells with decreased expression of multiple activating receptors is a dominant phenotype in pediatric patients with acute lymphoblastic leukemia.

NK cells have unique attributes to react towards cells undergoing malignant transformation or viral infection. This reactivity is regulated by activating or inhibitory germline encoded receptors. An impaired NK cell function may result from an aberrant expression of such receptors, a condition often seen in patients with hematological cancers.

Case report: Functional characterization of a c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon.

A subgroup of congenital disorders of glycosylation (CDGs) includes inherited GPI-anchor deficiencies (IGDs) that affect the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, including the first reaction catalyzed by the X-linked . Here, we show the first PIGA-CDG case reported in Mexico in a male child with a moderate-to-severe phenotype characterized by neurological and gastrointestinal symptoms, including megacolon. Exome sequencing identified the hemizygous variant c.

Polysialic Acid in the Immune System.

Polysialic acid (polySia) is a highly regulated polymer of sialic acid (Sia) with such potent biophysical characteristics that when expressed drastically influences the interaction properties of cells. Although much of what is known of polySia in mammals has been elucidated from the study of its role in the central nervous system (CNS), polySia is also expressed in other tissues, including the immune system where it presents dynamic changes during differentiation, maturation, and activation of different types of immune cells of the innate and adaptive response, being involved in key regulatory mechanisms. At least six polySia protein carriers (CCR7, ESL-1, NCAM, NRP2, ST8Sia 2, and ST8Sia 4) are expressed in different types of immune cells, but there is still much to be explored in regard not only to the regulatory mechanisms that determine their expression and the structure of polySia chains but also to the identification of the - and - ligands of polySia that establish signaling networks.

The Heat Shock Protein 60 and Pap1 Participate in the -Host Interaction.

is one of the etiological agents of sporotrichosis, a worldwide-distributed subcutaneous mycosis. Its cell wall contains a glycoconjugate composed of rhamnose, mannose, glucuronic acid, and proteins, named peptidorhamnomannan, which harbors important -specific immunogenic epitopes. Although the peptidorhamnomannan carbohydrate moiety has been extensively studied, thus far, little is known about the protein core.

SLAMF7 selectively favors degranulation to promote cytotoxicity in human NK cells.

NK cells play an important role in immunity by recognizing and eliminating cells undergoing infection or malignant transformation. This role is dependent on the ability of NK cells to lyse targets cells in a perforin-dependent mechanism and by secreting inflammatory cytokines. Both effector functions are controlled by several cell surface receptors.

Role of Protein Glycosylation in Interactions of Medically Relevant Fungi with the Host.

Protein glycosylation is a highly conserved post-translational modification among organisms. It plays fundamental roles in many biological processes, ranging from protein trafficking and cell adhesion to host-pathogen interactions. According to the amino acid side chain atoms to which glycans are linked, protein glycosylation can be divided into two major categories: glycosylation and glycosylation.

Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.

[This corrects the article DOI: 10.3389/fgene.2021.

ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.

This study reports on a Mexican mestizo patient with a multi-systemic syndrome including neurological involvement and a type I serum transferrin profile. Clinical exome sequencing revealed complex alleles in , the encoding gene for the chitobiosyldiphosphodolichol beta-mannosyltransferase that participates in the formation of the dolichol-pyrophosphate-GlcNAc2Man5, a lipid-linked glycan intermediate during -glycan synthesis. The identified complex alleles were NM_019109.

Disruption of protein rhamnosylation affects the host interaction.

Sporotrichosis is a fungal disease caused by the members of the pathogenic clade, and one of the etiological agents is The cell wall of this organism has been previously analyzed and thus far is known to contain an inner layer composed of chitin and β -glucans, and an outer layer of glycoproteins, which are decorated with mannose and rhamnose-containing oligosaccharides. The L-rhamnose biosynthesis pathway is common in bacteria but rare in members of the Fungi kingdom. Therefore, in this study, we aimed to disrupt this metabolic route to assess the contribution of rhamnose during the -host interaction.

as an Alternative Model to Analyze the Species Virulence.

Background: Sporotrichosis is an increasing threat for humans, affecting mainly skin and subcutaneous tissues but that can cause disseminated infection in immunocompromised patients. , and are the main etiological agents of this mycosis, and each species show different virulence levels. The gold standard to assess fungal virulence is the mouse model that is expensive and time-consuming.