The recombination-activating gene 1 (RAG1) and RAG2 proteins initiate the V (D) J
recombination process, which ultimately enables the generation of T cells and B cells with a …

Inborn errors of immunity (IEI) are diseases caused by genetic mutations that affect the
immune system's ability to fight pathogens, cope with the microbiota or regulate …

Purpose To review the clinical and laboratory spectrum of RAG gene defects in humans, and
discuss the mechanisms underlying phenotypic heterogeneity, the basis of immune …

Haematopoietic stem cell (HSC) gene therapy has been successfully employed as a
therapeutic option to treat specific inherited immune deficiencies, including severe …

Severe combined immunodeficiency (SCID) arises from different genetic defects associated
with lymphocyte development and function and presents with severe infections. Allogeneic …

The mature lymphocyte population of a healthy individual has the remarkable ability to
recognise an immense variety of antigens. Instead of encoding a unique gene for each …

Severe combined immune deficiency (SCID) caused by RAG1 or RAG2 deficiency is a
genetically determined immune deficiency characterized by the virtual absence of T and B …

Mutations of the recombinase activating genes (RAG) in humans underlie a broad spectrum
of clinical and immunological phenotypes that reflect different degrees of impairment of T …

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 …

Pyruvate kinase deficiency (PKD) is a monogenic metabolic disease caused by mutations in
the PKLR gene that leads to hemolytic anemia of variable symptomatology and that can be …