Features include always present findings: Lymphadenopathy, Recurrent fever, Hepatosplenomegaly, and Reduced total natural killer cell count; and very common findings: Hodgkin lymphoma. 10 total HPO annotations.

CD70 encodes CD70 molecule (193 aa). Expressed at the plasma membrane of B cells, it is the ligand of the CD27 receptor which is specifically expressed at the surface of T cells. Highest expression in Cells EBV-transformed lymphocytes (340.6 TPM) and Spleen (2.5 TPM).

Severe combined immunodeficiency due to CD70 deficiency is caused by mutations in the CD70 gene on chromosome 19.

The CD70 protein participates in CD27:CD70 homotrimer pathway.

CD70 is classified as a druggable target (Clinically Actionable and Druggable Genome categories) with score 12.0.

Genetic testing for CD70 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 1 very common feature, 3 common features.

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

No clinical trials have been registered for severe combined immunodeficiency due to CD70 deficiency.

88 publications have been identified in PubMed for severe combined immunodeficiency due to CD70 deficiency. Kisho has analyzed 61 by research type. Research spans Case Report / Case Series (30%), Review / Meta-Analysis (26%), and Epidemiology / Natural History (23%).