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Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency disorders...
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Ribosome Profiling02:24

Ribosome Profiling

Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique helps...
Riboswitches01:56

Riboswitches

Riboswitches are non-coding mRNA domains that regulate the transcription and translation of downstream genes without the help of proteins. Riboswitches bind directly to a metabolite and can form unique stem-loop or hairpin structures in response to the amount of the metabolite present. They have two distinct regions – a metabolite-binding aptamer and an expression platform.
The aptamer has high specificity for a particular metabolite which allows riboswitches to specifically regulate...
Respiratory Syncytial Virus Disease01:29

Respiratory Syncytial Virus Disease

Human respiratory syncytial virus (RSV) is a widespread pathogen that primarily targets infants and young children but also poses a serious health risk to elderly and immunocompromised individuals. Belonging to the Pneumoviridae family, RSV is a negative-sense, single-stranded RNA virus within the Pneumovirus genus. Its global health burden is significant, with millions of cases annually resulting in hospitalizations and mortality, particularly in resource-limited settings. Although most...

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Simultaneous Quantification of T-Cell Receptor Excision Circles (TRECs) and K-Deleting Recombination Excision Circles (KRECs) by Real-time PCR
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Do ribosomopathies explain some cases of common variable immunodeficiency?

S Khan1, J Pereira, P J Darbyshire

  • 1Department of Immunology, Frimley Park Hospital NHS Foundation Trust, Portsmouth Road, Frimley, Camberley, Surrey, UK. sujoy.khan@fph-tr.nhs.uk

Clinical and Experimental Immunology
|November 11, 2010
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Ribosome biogenesis defects, or ribosomopathies, may cause a subset of common variable immunodeficiency disorders (CVID). This challenges adult diagnoses but offers potential new therapeutic strategies for CVID patients.

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Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Common variable immunodeficiency disorders (CVID) present with significant clinical heterogeneity.
  • Bone marrow failure syndromes like Diamond-Blackfan anemia (DBA) and Shwachman-Diamond syndrome (SDS) are increasingly recognized as ribosomopathies, involving defects in ribosome biogenesis.

Observation:

  • A patient with DBA later developed CVID, supporting previous findings of SBDS gene mutations in CVID patients.
  • Diagnosing ribosomopathies in adults with complex phenotypes and hypogammaglobulinaemia can be challenging.
  • Immunological abnormalities are observed in other conditions linked to ribosomal dysfunction.

Findings:

  • Ribosome biogenesis defects are hypothesized to underlie a subset of CVID cases.
  • Genetic testing for bone marrow failure syndromes can be leveraged to investigate this hypothesis in CVID patients.

Implications:

  • Identifying ribosomal abnormalities in CVID could lead to novel therapeutic strategies.
  • This research broadens the understanding of immunodeficiency disorders and their genetic underpinnings.
  • Future studies can validate the link between ribosomal gene mutations and CVID through genetic testing.