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 …

Granulomas have been defined as inflammatory infiltrates formed by recruitment of
macrophages and T cells. The three-dimensional spherical structure typically consists of a …

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

This study was conducted in accordance with the Declaration of Helsinki. Patients gave their
written informed consent that anonymized data could be included in a scientific publication …

Recombination activating genes (RAG) 1 and RAG2 deficiency leads to combined T/B-cell
deficiency with varying clinical presentations. This study aimed to define the …

Systemic lupus erythematosus (SLE) is a complex disease with different genetic,
immunologic, and environmental factors contributing to the pathogenesis. Monogenic SLE …

Granulomatous-Lymphocytic Interstitial Lung disease (GLILD) is a granulomatous and
lymphoproliferative condition occurring in~ 25% of Common Variable Immunodeficiency …

Combined immunodeficiencies (CIDs) are a clinically and genetically heterogeneous group
of primary immunodeficiencies (PIDs) that affect T-lymphocyte immunity with abnormal …

The T-cell receptor excision circle (TREC) assay detects T-cell lymphopenia (TCL) in
newborns and is especially important to identify severe combined immunodeficiency (SCID) …

Abstract Recombination-activating gene 1 (RAG1) is a vital player in V (D) J recombination,
a fundamental process in primary B cell and T cell receptor diversification of the adaptive …