An update on inborn errors of V(D)J recombination - PubMed
3 hours ago
- #immune deficiency
- #inborn errors of immunity
- #V(D)J recombination
- V(D)J recombination is essential for generating diverse antigen receptors in T and B lymphocytes, enabling adaptive immunity.
- Disruptions in V(D)J recombination cause inborn errors of immunity, ranging from severe combined immunodeficiency (SCID) to immune dysregulation with autoimmunity.
- Key pathogenic variants affect cleavage (RAG1, RAG2, NUDCD3), end processing (ARTEMIS), ligation/repair (LIG4, XLF, XRCC4, PRKDC), and genome surveillance (ATM, MRN complex, RNF168).
- Recent diagnostic advances include newborn screening using T-cell receptor excision circles, repertoire sequencing, and functional assays.
- Continued integration of clinical observation with molecular discovery is crucial to improve outcomes and understand adaptive immune development.