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 …

A girl presented during childhood with a single course of extensive chickenpox and
moderate albeit recurrent pneumonia in the presence of idiopathic CD4+ T lymphocytopenia …

Background Recombination-activating gene 1 (RAG1) deficiency results in severe combined
immunodeficiency (SCID) caused by a complete lack of T and B lymphocytes. If untreated …

Abstract Recombination-activating gene (RAG) 1 and 2 mutations in humans cause T− B−
NK+ SCID and Omenn syndrome, but milder phenotypes associated with residual protein …

We describe a boy who developed autoinflammatory (chronic sterile multifocal
osteomyelitis) and autoimmune (autoimmune cytopenias; vitiligo) phenotypes who …

Amorphic mutations in the recombination activating genes RAG1 and RAG2 have been
reported to cause T–B–SCID, whereas hypomorphic mutations led to the expansion of a few …

Introduction Recombination activating genes (RAG) 1 and 2 defects are the most frequent
form of severe combined immunodeficiency (SCID). Patients with residual RAG activity have …

Defects in DNA Recombination due to mutations in RAG1/2 or DCLRE1C result in combined
immunodeficiency (CID) with a range of disease severity. We present the clinical …

Rag2 plays an essential role in the generation of antigen receptors. Mutations that impair
Rag2 function can lead to severe combined immunodeficiency (SCID), a condition …

We report a male with atypical severe combined immunodeficiency caused by heterozygous
compound mutations c. 256-257del and c. C1331T in RAG1 gene. The patient presents with …