DCLRE1C encodes DNA cross-link repair 1C (692 aa). Nuclease involved in DNA non-homologous end joining (NHEJ); required for double-strand break repair and V(D)J recombination. Highest expression in Cells EBV-transformed lymphocytes (9.0 TPM) and Spleen (5.2 TPM).

Severe combined immunodeficiency due to DCLRE1C deficiency is caused by mutations in the DCLRE1C gene on chromosome 10.

The DCLRE1C protein participates in TP53BP1 recruits DCLRE1C to ATM, DCLRE1C (ARTEMIS) processes DNA DSB ends, and XRCC4:LIG4, NHEJ1 and POLL or POLM bind DNA DSBs in NHEJ pathways.

DCLRE1C is classified as a druggable target with score 0.0.

Genetic testing for DCLRE1C is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for severe combined immunodeficiency due to DCLRE1C deficiency has been reported in the published literature.

Phenotype severity distribution: 13 always present features, 6 common features.

Estimated prevalence: Unknown (Unknown prevalence).

2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy, other interventions, and medical devices. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

19 publications have been identified in PubMed for severe combined immunodeficiency due to DCLRE1C deficiency. Research spans Diagnostic / Biomarker (21%), Case Report / Case Series (21%), and Epidemiology / Natural History (16%).

Recent Publications

• Jacovas VC (2026). [PMID: 41104538](https://pubmed.ncbi.nlm.nih.gov/41104538/). *Genetics in medicine : official journal of the American College of Medical Genetics*. [Diagnostic / Biomarker]

• Duran T (2026). [PMID: 41762386](https://pubmed.ncbi.nlm.nih.gov/41762386/). *Immunologic research*. [Gene Therapy / Novel Therapeutics]

• Rayes A (2026). [PMID: 41289158](https://pubmed.ncbi.nlm.nih.gov/41289158/). *Blood advances*. [Clinical Trial Publication]

• Schim van der Loeff I (2026). [PMID: 41902554](https://pubmed.ncbi.nlm.nih.gov/41902554/). *Physiology (Bethesda, Md.)*. [Review / Meta-Analysis]

• Asseri AA (2026). [PMID: 41917755](https://pubmed.ncbi.nlm.nih.gov/41917755/). *Fetal and pediatric pathology*. [Epidemiology / Natural History]

• Argudo-Ramírez A (2026). [PMID: 42079620](https://pubmed.ncbi.nlm.nih.gov/42079620/). *Front Immunol*. [Diagnostic / Biomarker]

• Lyytikäinen A (2026). [PMID: 42170003](https://pubmed.ncbi.nlm.nih.gov/42170003/). *J Hum Immun*. [Basic Science / Preclinical]

• Wang Y (2026). [PMID: 42209588](https://pubmed.ncbi.nlm.nih.gov/42209588/). *Sci Rep*. [Epidemiology / Natural History]

• Lum SH (2026). [PMID: 41958357](https://pubmed.ncbi.nlm.nih.gov/41958357/). *British journal of haematology*. [Clinical Trial Publication]

• Huang Z (2026). [PMID: 42138773](https://pubmed.ncbi.nlm.nih.gov/42138773/). *Adv Biotechnol (Singap)*. [Gene Therapy / Novel Therapeutics]