Features include always present findings: Status epilepticus, Decreased proportion of central memory CD4-positive T cells, Seizure, and Recurrent infections and others. 8 total HPO annotations.

BCL10 encodes BCL10 immune signaling adaptor (233 aa). Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation. Highest expression in Cells Cultured fibroblasts (26.9 TPM) and Cells EBV-transformed lymphocytes (24.8 TPM).

Immunodeficiency 37 is caused by mutations in the BCL10 gene on chromosome 1.

The BCL10 protein participates in BCL10 oligomerizes, Oligomerization of Bcl10, and Interaction of Bcl10 to CARMA1 pathways.

BCL10 is classified as a druggable target (Clinically Actionable category) with score 0.0.

Genetic testing for BCL10 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 37 has been reported in the published literature.

Phenotype severity distribution: 6 always present features.

No clinical trials have been registered for immunodeficiency 37.

287 publications have been identified in PubMed for immunodeficiency 37. Kisho has analyzed 45 by research type. Research spans Epidemiology / Natural History (42%), Review / Meta-Analysis (22%), and Clinical Trial Publication (13%).