RAG1

RAG1 function has not been fully characterized.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive is associated with mutations in the RAG1 gene on chromosome 11.

RAG2

RAG2 function has not been fully characterized.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive is associated with mutations in the RAG2 gene on chromosome 11.

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

Biomarker and diagnostic research for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive has been reported in the published literature.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

No clinical trials have been registered for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.

4 publications have been identified in PubMed for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive. Research spans Epidemiology / Natural History (50%), Diagnostic / Biomarker (25%), and Case Report / Case Series (25%).

Recent Publications

• Chan CM (2026). [PMID: 41727494](https://pubmed.ncbi.nlm.nih.gov/41727494/). *Front Immunol*. [Case Report / Case Series]

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

• Do Carmo AP (2025). [PMID: 40488587](https://pubmed.ncbi.nlm.nih.gov/40488587/). *Acta Derm Venereol*. [Epidemiology / Natural History]

• Tahiat A (2024). [PMID: 39072316](https://pubmed.ncbi.nlm.nih.gov/39072316/). *Front Immunol*. [Diagnostic / Biomarker]