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 …

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 …

Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic
defects that functionally impact the development and/or function of the innate and/or …

Primary immunodeficiencies (PIDs) are genetic disorders impairing host immunity, leading
to life-threatening infections, autoimmunity, and/or malignancies. Genomic technologies …

Recombination-activating genes 1 and 2 (RAG1 and RAG2) play a critical role in T and B
cell development by initiating the recombination process that controls the expression of T …

Predominantly antibody deficiencies (PAD) are a heterogeneous group of disorders
characterized by dysfunctional antibody production, low immunoglobulin levels in serum …

Background Although autoimmunity and hyperinflammation secondary to recombination
activating gene (RAG) deficiency have been associated with delayed diagnosis and even …

Previous studies on immune responses following COVID-19 vaccination in patients with
common variable immunodeficiency (CVID) were inconclusive with respect to the ability of …

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 …

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 …