Article
RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.
European journal of immunology - 1 May 2021
Bosticardo Marita, Pala Francesca, Notarangelo Luigi D
Abstract excerpt
The RAG1 and RAG2 proteins initiate the process of V(D)J recombination and therefore play an essential role in adaptive immunity. While null mutations in the RAG genes cause severe combined immune deficiency with lack of T and B cells (T- B- SCID) and susceptibility to life-threatening, early-onset infections, studies in humans and mice have demonstrated that hypomorphic RAG mutations are associated with defects...
Topics
- Animals
- DNA-Binding Proteins
- Diagnosis, Differential
- Disease Management
- Disease Models, Animal
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genetic Therapy
- Genotype
- Homeodomain Proteins
- Humans
- Mutation
- Nuclear Proteins
- Phenotype
- Severe Combined Immunodeficiency
- V(D)J Recombination