Features include always present findings: Decreased total B cell count. 18 total HPO annotations.

DCLRE1C

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).

Omenn syndrome is associated with 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.

RAG1

RAG1 function has not been fully characterized.

Omenn syndrome is associated with mutations in the RAG1 gene on chromosome 11.

RAG2

RAG2 function has not been fully characterized.

Genetic testing for DCLRE1C, RAG1, RAG2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Omenn syndrome has been reported in the published literature.

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions and biologic therapy. Pipeline includes 1 PHASE2. Research is primarily sponsored by academic and government institutions.

41 publications have been identified in PubMed for Omenn syndrome. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (17%), and Review / Meta-Analysis (12%).