V (D) J recombination assembles immunoglobulin and T cell receptor genes during
lymphocyte development through a series of carefully orchestrated DNA breakage and …

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 …

Severe combined immunodeficiency (SCID) is one of the most severe forms of primary
immunodeficiency characterized by absence of functional T lymphocytes. It is a paediatric …

Severe combined immunodeficiencies (SCIDs) are a group of inherited disorders
responsible for severe dysfunctions of the immune system. These diseases are life …

Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic
defects that functionally impact the development and/or function of the innate and/or …

T cells develop from hematopoietic stem cells in the specialized microenvironment of the
thymus. The main transcriptional players of T-cell differentiation such as Notch, Tcf-1, Gata3 …

Null mutations in genes involved in V (D) J recombination cause a block in B-and T-cell
development, clinically presenting as severe combined immunodeficiency (SCID) …

ATM is often dubbed the master regulator of the DNA double stranded break (DSB)
response. Since proper induction and repair of DNA DSBs forms the core of immunological …

Abstract Human SCID (Severe Combined Immunodeficiency) is a prenatal disorder of T
lymphocyte development, that depends on the expression of numerous genes. The …

A recent surge in newly described primary immunodeficiencies (PIDs) has highlighted new
physiological and pathophysiological pathways that affect the immune system. Furthermore …