Cargando…

Phenotypic and immune functional profiling of patients with suspected Mendelian Susceptibility to Mycobacterial Disease in South Africa

BACKGROUND: Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a primary immunodeficiency (PID) characterised by a predisposition to infection by weakly-pathogenic mycobacteria. In countries with a high prevalence of tuberculosis (TB), individuals with MSMD are also prone to infections by M...

Descripción completa

Detalles Bibliográficos
Autores principales:	van Coller, Ansia, Glanzmann, Brigitte, Cornelissen, Helena, Möller, Marlo, Kinnear, Craig, Esser, Monika, Glashoff, Richard
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8436520/ https://www.ncbi.nlm.nih.gov/pubmed/34517836 http://dx.doi.org/10.1186/s12865-021-00452-6

Ejemplares similares

Challenges of Diagnosing Mendelian Susceptibility to Mycobacterial Diseases in South Africa
por: Scholtz, Denise, et al.
Publicado: (2023)

Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting
por: Engelbrecht, Clair, et al.
Publicado: (2021)

Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report
por: Glanzmann, Brigitte, et al.
Publicado: (2020)

Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa
por: Kinnear, Craig, et al.
Publicado: (2017)

Human whole genome sequencing in South Africa
por: Glanzmann, Brigitte, et al.
Publicado: (2021)

African wild dogs (Lycaon pictus) from the Kruger National Park, South Africa are currently not inbred but have low genomic diversity
por: Meiring, Christina, et al.
Publicado: (2022)

A new tool for prioritization of sequence variants from whole exome sequencing data
por: Glanzmann, Brigitte, et al.
Publicado: (2016)

Deciphering Genetic Susceptibility to Tuberculous Meningitis
por: Schurz, Haiko, et al.
Publicado: (2022)

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

Mendelian susceptibility to mycobacterial diseases: State of the puzzle
por: Errami, Abderrahmane, et al.
Publicado: (2023)

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency
por: Schlechter, Nikola, et al.
Publicado: (2017)

The X chromosome and sex-specific effects in infectious disease susceptibility
por: Schurz, Haiko, et al.
Publicado: (2019)

Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico
por: Peñafiel Vicuña, Ana Karen, et al.
Publicado: (2022)

Strong Effect of Demographic Changes on Tuberculosis Susceptibility in South Africa
por: Oyageshio, Oshiomah P., et al.
Publicado: (2023)

Mendelian susceptibility to mycobacterial infection should be ruled out in Mycobacterium chelonae empyema
por: González-Granado, Luis Ignacio
Publicado: (2010)

Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India
por: Taur, Prasad D., et al.
Publicado: (2021)

Outcome of Hematopoietic Stem Cell Transplantation in patients with Mendelian Susceptibility to Mycobacterial Diseases
por: Radwan, Nesrine, et al.
Publicado: (2021)

PB2036: PERIPHERAL BLOOD CYTOPENIA, AN EARLY INDICATOR OF INBORN ERRORS OF IMMUNITY
por: Chapanduka, Zivanai Cuthbert, et al.
Publicado: (2023)

Effective anti-mycobacterial treatment for BCG disease in patients with Mendelian Susceptibility to Mycobacterial Disease (MSMD): a case series
por: Mahdaviani, Seyed Alireza, et al.
Publicado: (2022)

Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic
por: Prucha, Miroslav, et al.
Publicado: (2020)

A novel STAT1 loss-of-function mutation associated with Mendelian susceptibility to mycobacterial disease
por: Ye, Fanghua, et al.
Publicado: (2022)

Adult-onset Mendelian Susceptibility to Mycobacterial Diseases: A case report and systematic literature review
por: Yang, Yang, et al.
Publicado: (2023)

Peripheral‐blood cytopenia, an early indicator of inborn errors of immunity
por: Cornelissen, Helena M., et al.
Publicado: (2022)

The complete genome sequence of the African buffalo (Syncerus caffer)
por: Glanzmann, Brigitte, et al.
Publicado: (2016)

High diversity, inbreeding and a dynamic Pleistocene demographic history revealed by African buffalo genomes
por: de Jager, Deon, et al.
Publicado: (2021)

Fibrosing mediastinitis in a child with Mendelian susceptibility to mycobacterial disease possibly due to Bacillus Calmette-Guérin
por: Sharifinejad, Niusha, et al.
Publicado: (2022)

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

An observational study identifying highly tuberculosis-exposed, HIV-1-positive but persistently TB, tuberculin and IGRA negative persons with M. tuberculosis specific antibodies in Cape Town, South Africa
por: Kroon, Elouise E., et al.
Publicado: (2020)

Tracking the circulating SARS-CoV-2 variant of concern in South Africa using wastewater-based epidemiology
por: Johnson, Rabia, et al.
Publicado: (2022)

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children
por: SARRAFZADEH, Shokouh Azam, et al.
Publicado: (2016)

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children
por: SARRAFZADEH, Shokouh azam, et al.
Publicado: (2016)

Chronic upper airway inflammation related to high Th2 cytokines in Mendelian susceptibility to mycobacterial disease case
por: Benhsaien, Ibtihal, et al.
Publicado: (2022)

Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease
por: Zhou, Xiaopei, et al.
Publicado: (2019)

IL-12Rβ1 deficiency corresponding to concurrency of two diseases, mendelian susceptibility to mycobacterial disease and Crohn's disease
por: Khoshnevisan, Razieh, et al.
Publicado: (2019)

Juvenile idiopathic arthritis in two tertiary centres in the Western Cape, South Africa
por: Weakley, Kate, et al.
Publicado: (2012)

Using multi-way admixture mapping to elucidate TB susceptibility in the South African Coloured population
por: Daya, Michelle, et al.
Publicado: (2014)

Delineating the Spread and Prevalence of SARS-CoV-2 Omicron Sublineages (BA.1–BA.5) and Deltacron Using Wastewater in the Western Cape, South Africa( )
por: Johnson, Rabia, et al.
Publicado: (2022)

Prevalence of Non-Tuberculous Mycobacterial Infections among Tuberculosis Suspects in Nigeria
por: Aliyu, Gambo, et al.
Publicado: (2013)

Epidemiological correlates of overweight and obesity in the Northern Cape Province, South Africa
por: Smith, Mackenzie H., et al.
Publicado: (2023)

Prevalence of cardiotropic viruses in adults with clinically suspected myocarditis in South Africa
por: Hassan, Karim, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_bb925cg3pq4g0ujr5uvgbjo5bn