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Related Concept Videos

Gene Therapy00:59

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Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
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Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
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Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
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Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
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Related Experiment Video

Updated: Feb 7, 2026

Evaluating Therapeutic Interventions in the SHIP-deficient Mouse Model of Crohn Disease-like Ileitis and Fibrosis
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RAG Deficiency: Two Genes, Many Diseases.

Ottavia M Delmonte1, Catharina Schuetz2, Luigi D Notarangelo3

  • 1Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.

Journal of Clinical Immunology
|July 27, 2018
PubMed
Summary

RAG gene defects cause diverse clinical and immune issues. Understanding these RAG gene defects is key for better treatments, especially for severe forms of the disease.

Keywords:
Recombinase-activating genesautoimmunityhematopoietic stem cell transplantationimmunodeficiencyimmunological tolerance

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Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Recombination-activating genes (RAG) are crucial for adaptive immunity.
  • Defects in RAG genes lead to severe combined immunodeficiency (SCID) and other immune dysregulation syndromes.
  • Phenotypic variability in RAG deficiencies presents diagnostic and therapeutic challenges.

Purpose of the Study:

  • To comprehensively review the clinical and laboratory features of RAG gene defects in humans.
  • To elucidate the mechanisms behind the diverse clinical presentations and immune dysregulation.
  • To discuss current and future treatment strategies for RAG-related disorders.

Main Methods:

  • Systematic literature review of RAG gene defects.
  • Analysis of patient medical records.
  • In vitro assessment of mutant RAG protein function.

Main Results:

  • RAG gene defects manifest a wide spectrum of clinical and immunological phenotypes.
  • A correlation exists between the in vitro recombination activity of mutant RAG proteins and clinical outcomes.
  • Impaired T and B cell development underlies the defects in immune tolerance observed in patients.
  • Hematopoietic cell transplantation is the primary treatment for severe cases, but graft failure is a concern.

Conclusions:

  • The phenotypic heterogeneity of RAG gene defects poses diagnostic difficulties.
  • Improved treatments are needed for severe, early-onset RAG deficiency.
  • Optimal therapeutic approaches for delayed-onset RAG disease with autoimmunity require further definition.