Cargando…

Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression

Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) exhibit variable vulnerability to infections by mycobacteria and other intramacrophagic bacteria (e.g., Salmonella and Klebsiella) and fungi (e.g., Histoplasma, Candida, Paracoccidioides, Coccidioides, and Cryptococcus). The hal...

Descripción completa

Detalles Bibliográficos
Autores principales:	Louvain de Souza, Thais, de Souza Campos Fernandes, Regina C., Azevedo da Silva, Juliana, Gomes Alves Júnior, Vladimir, Gomes Coelho, Adelia, Souza Faria, Afonso C., Moreira Salomão Simão, Nabia M., Souto Filho, João T., Deswarte, Caroline, Boisson-Dupuis, Stéphanie, Torgerson, Dara, Casanova, Jean-Laurent, Bustamante, Jacinta, Medina-Acosta, Enrique
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2017
Materias:	Microbiology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389975/ https://www.ncbi.nlm.nih.gov/pubmed/28450854 http://dx.doi.org/10.3389/fmicb.2017.00616

Ejemplares similares

A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease
por: Kong, Xiao-Fei, et al.
Publicado: (2013)

Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing
por: Bigio, Benedetta, et al.
Publicado: (2021)

A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review
por: AlKhater, Suzan A., et al.
Publicado: (2020)

Mendelian Susceptibility to Mycobacterial Disease in Egyptian Children
por: Galal, Nermeen, et al.
Publicado: (2012)

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation
por: Jabot-Hanin, Fabienne, et al.
Publicado: (2017)

High prevalence of arthralgia among infants with Chikungunya disease during the 2019 outbreak in northern region of the state of Rio de Janeiro
por: Gomes, Patrícia Damião, et al.
Publicado: (2022)

An Exclusively Skewed Distribution of Pediatric Immune Reconstitution Inflammatory Syndrome Toward the Female Sex Is Associated With Advanced Acquired Immune Deficiency Syndrome
por: de Souza Campos Fernandes, Regina Célia, et al.
Publicado: (2019)

P03-025 – Differential diagnosis of autoimmune disorders
por: Kozlova, A, et al.
Publicado: (2013)

Contemporary IP Paradoxes
por: Salomão Filho, Calixto
Publicado: (2022)

Predictors of Testicular Cancer Mortality in Brazil: A 20-Year Ecological Study
por: Franco, Ana Paula de Souza, et al.
Publicado: (2023)

Associations Between the Purinergic Receptor P2X7 and Leprosy Disease
por: Souza, Rebeka da Conceição, et al.
Publicado: (2021)

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy
por: Gruber, Conor, et al.
Publicado: (2020)

ISG15: leading a double life as a secreted molecule
por: Bogunovic, Dusan, et al.
Publicado: (2013)

Association Study of Genes Controlling IL-12-dependent IFN-γ Immunity: STAT4 Alleles Increase Risk of Pulmonary Tuberculosis in Morocco
por: Sabri, Ayoub, et al.
Publicado: (2014)

Crlz-1 Homozygous Null Knockout Mouse Embryos Are Lethally Stopped in Their Early Development
por: Choi, Seung-Young, et al.
Publicado: (2022)

Hepatocellular Carcinoma: Portuguese Data in Chronic Hepatitis B Patients on Antiviral Therapy and Treatment Results With Sorafenib
por: Simão, Adélia
Publicado: (2016)

Placental Histopathology and Clinical Presentation of Severe Congenital Zika Syndrome in a Human Immunodeficiency Virus-Exposed Uninfected Infant
por: Rabelo, Kíssila, et al.
Publicado: (2017)

A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease
por: Staels, Frederik, et al.
Publicado: (2022)

Minimizing the risk of perioperative cardiovascular complications in homozygous familial hypercholesterolemia: a case report
por: Khan, Saad, et al.
Publicado: (2020)

Tuberculin Skin Test Negativity Is Under Tight Genetic Control of Chromosomal Region 11p14-15 in Settings With Different Tuberculosis Endemicities
por: Cobat, Aurélie, et al.
Publicado: (2015)

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation
por: Vogt, Guillaume, et al.
Publicado: (2008)

Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy
por: Kalayinia, Samira, et al.
Publicado: (2022)

Vitamin A Status Improvement in Obesity: Findings and Perspectives Using Encapsulation Techniques
por: Gomes, Camila de Carvalho, et al.
Publicado: (2021)

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations
por: Jabot-Hanin, Fabienne, et al.
Publicado: (2016)

Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway
por: Haake, Kathrin, et al.
Publicado: (2020)

Human autoantibodies underlying infectious diseases
por: Puel, Anne, et al.
Publicado: (2022)

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings
por: Li, Qifei, et al.
Publicado: (2021)

Concomitant Nitrofurantoin-Induced Autoimmune Hepatitis and Interstitial Lung Disease
por: Carvalho de Matos, Andreia, et al.
Publicado: (2021)

Evaluation of Lipid Profiles of Children and Youth from Basic Health Units in Campinas, SP, Brazil: A Cross-Sectional Laboratory Study
por: Gomes, Érica Ivana Lázaro, et al.
Publicado: (2020)

Stop Codon Usage as a Window into Genome Evolution: Mutation, Selection, Biased Gene Conversion and the TAG Paradox
por: Ho, Alexander T, et al.
Publicado: (2022)

HIV and neoplasms: What do we know so far?
por: de Souza, Thais Faria, et al.
Publicado: (2023)

Tag and probe for CMS Open Data
por: Gomes De Souza, Raphael
Publicado: (2019)

Surgical counting: design of implementation and maintenance of a standardized evidence-based procedure
por: Gomes, Eduardo Tavares, et al.
Publicado: (2023)

Stop! Stop!
Publicado: (1913)

Methodologies to Assess the Biodegradability of Bio-Based Polymers—Current Knowledge and Existing Gaps
por: Pires, João Ricardo Afonso, et al.
Publicado: (2022)

Current Applications of Bionanocomposites in Food Processing and Packaging
por: Pires, João Ricardo Afonso, et al.
Publicado: (2023)

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and glial cells: Insights and perspectives
por: Vargas, Gabriele, et al.
Publicado: (2020)

Partial human Janus kinase 1 deficiency predominantly impairs responses to interferon gamma and intracellular control of mycobacteria
por: Daza-Cajigal, Vanessa, et al.
Publicado: (2022)

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes
por: Boisson-Dupuis, Stephanie, et al.
Publicado: (2012)

Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years
por: Kerner, Gaspard, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_8at12a9ebsivjq9kseoa4f1h9d