The V(D)J recombination process insures the somatic diversification of immunoglobulin-encoding and antigen T-cell receptor-encoding genes. This reaction is initiated by a DNA double-strand break, which is resolved by the ubiquitously expressed DNA repair machinery.
Human T-B severe combined immunodeficiency associated with increased cellular radiosensitivity (RS-SCID) (MIM.602450) is characterized by a defect in V(D)J recombination leading to an early arrest of both B- and T-cell maturation.
Pathology
germline mutations of DCLRE1C (ARTEMIS) in
- RS-SCID (MIM.602450)
- Ommen disease (MIM.603554)