DCLRE1C
MIM.605988 10p
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
- DCLRE1C associated-SCID (MIM.602450)
- Ommen disease (MIM.603554)
Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. (#12569164#)
References
Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. Moshous D, Pannetier C, Chasseval Rd R, Deist Fl F, Cavazzana-Calvo M, Romana S, Macintyre E, Canioni D, Brousse N, Fischer A, Casanova JL, Villartay JP. J Clin Invest. 2003 Feb;111(3):381-7. PMID: #12569164#