Features include always present findings: Recurrent infections, Lymphadenopathy, Recurrent pneumonia, and Enlarged spleen (splenomegaly) and others; and common findings: Chronic lung disease, Persistent EBV viremia, Decreased CD4+ T cell proportion, and Failure to thrive and others. 22 total HPO annotations.

LAT encodes linker for activation of T cells (262 aa). Required for TCR (T-cell antigen receptor)- and pre-TCR-mediated signaling, both in mature T-cells and during their development. Highest expression in Artery Tibial (62.6 TPM) and Spleen (51.9 TPM).

Severe combined immunodeficiency due to LAT deficiency is caused by mutations in the LAT gene on chromosome 16.

LAT is classified as a druggable target (Kinase category) with score 34.8.

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

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

Phenotype severity distribution: 9 always present features, 9 common features.

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

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

164 publications have been identified in PubMed for severe combined immunodeficiency due to LAT deficiency. Research spans Epidemiology / Natural History (49%), Review / Meta-Analysis (20%), and Clinical Trial Publication (12%).