The primary immunodeficiency diseases (PIDs) include many genetic disorders that affect
different components of the innate and adaptive responses. The number of distinct genetic …

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 …

Hematopoietic stem cells (HSCs) support haematopoiesis throughout life and give rise to the
whole variety of cells of the immune system. Developing in the early embryo, passing …

The recombination-activating genes (RAG) 1 and 2 are indispensable for diversifying the
primary B cell receptor repertoire and pruning self-reactive clones via receptor editing in the …

T cells are critical orchestrators of the adaptive immune response that optimally eliminate a
specific pathogen. Aberrant T-cell development and function are implicated in a broad range …

Human immunoglobulin G (IgG) is the primary component of the human serum antibody
fraction, representing about 75% of the immunoglobulins and 10–20% of the total circulating …

The genes encoding adaptive immune antigen receptors, namely the immunoglobulins
expressed in membrane‐bound or secreted forms by B cells, and the cell surface T cell …

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 …

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

Traditionally, primary immune deficiencies have been defined based on increased
susceptibility to recurrent and/or severe infections. However, immune dysregulation …