Broadening Understanding of the Clinical and Immunological Characteristics in Cernunnos Deficiency
Abstract
Non-homologous end-joining (NHEJ) constitutes a pivotal DNA repair mechanism indispensable for V(D)J recombination in T and B lymphocyte antigen receptors. Although pathogenic mutations in the DNA repair factor Cernunnos have been sporadically documented, clinical and immunological phenotypes associated with NHEJ defects remain incompletely characterized. This retrospective study endeavors to comprehensively delineate the clinical, immunological, and genetic spectrum of Cernunnos deficiency by analyzing genetically confirmed cases registered in our national cohort of primary immunodeficiencies.
Fields of Study & Subjects
Immunodeficiency and Autoimmune Disorders
DNA Repair Mechanisms
Blood disorders and treatments
Publication details
- Journal / source
- World Allergy Organization Journal
- Volume
- 19
- Issue
- 2
- Pages
- 101281–101281
- Publication date
- 1 February 2026
- Language
- EN