Severe combined immunodeficiency (SCID) is a group of disorders caused by mutations in
genes involved in the process of lymphocyte maturation and function. CRISPR-Cas9 gene …

Background The recombination-activating gene (RAG) 1/2 proteins play a critical role in the
development of T and B cells by initiating the VDJ recombination process that leads to …

Background Recombination-activating gene 1 (RAG1) deficiency presents with a varied
spectrum of combined immunodeficiency, ranging from a T− B− NK+ type of disease to a T+ …

Primary immune deficiencies (PIDs) are an uncommon heterogeneous group of diseases
that result from fundamental defects in the proteins and cells that enable specific immune …

Mutations in the recombination activating gene 1 (RAG1) and RAG2 in humans are
associated with a broad spectrum of clinical phenotypes, from severe combined …

Background Mutations in recombination-activating gene (RAG) 1 and RAG2 are associated
with a broad range of clinical and immunologic phenotypes in human subjects. Objective …

SCID is approximately 1: 50,000. 3 Recent data from California's SCID newborn screening
identified RAG1/2 mutations in 28.6% of SCID/OS cases, for an incidence of about 1 …

Mutations affecting recombination activation genes RAG1 and RAG2 are associated with
variable phenotypes, depending on the residual recombinase activity. The aim of this study …

Background Recombination-activating gene (RAG) 1 and 2 deficiency is seen in patients
with severe combined immunodeficiency (SCID) and Omenn syndrome. However, the …

Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic
siblings should also be tested Lesson from hypomorphic recombination-activating gene (RAG) …