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 …

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 …

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 …

The RAG1/2 endonuclease initiates programmed DNA rearrangements in progenitor
lymphocytes by generating double-strand breaks at specific recombination signal …

We describe three unrelated girls who had an immunodeficiency disease with granulomas
in the skin, mucous membranes, and internal organs. All three girls had severe …

Patients with hypomorphic mutations in the RAG1 or RAG2 gene present with either Omenn
syndrome or atypical combined immunodeficiency with a wide phenotypic range …

Background Human immunodeficiencies characterized by hypomorphic mutations in critical
developmental and signaling pathway genes allow for the dissection of the role of these …

Patients with human severe combined immunodeficiency (SCID) can be divided into those
with B lymphocytes (B+ SCID) and those without (B− SCID). Although several genetic …

Destructive midline granulomatous disease characterized by necrotizing granulomas of the
head and neck is most commonly caused by Wegener granulomatosis, natural killer/T-cell …