Features include always present findings: Autoimmunity, Retinal vasculitis, Decreased circulating IgE concentration, and Recurrent lower respiratory tract infections and others.

LCK encodes LCK proto-oncogene, Src family tyrosine kinase (509 aa). Non-receptor tyrosine-protein kinase that plays an essential role in the selection and maturation of developing T-cells in the thymus and in the function of mature T-cells. Highest expression in Cells EBV-transformed lymphocytes (101.9 TPM) and Spleen (52.7 TPM).

Severe combined immunodeficiency due to LCK deficiency is caused by mutations in the LCK gene on chromosome 1.

The LCK protein participates in Activation of Lck, Inactivation of LCK by PTPN22, and Inactivation of Lck by Csk pathways.

LCK is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, Kinase, and Tyrosine Kinase categories) with score 0.7.

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

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

Phenotype severity distribution: 22 always present features.

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

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

117 publications have been identified in PubMed for severe combined immunodeficiency due to LCK deficiency. Research spans Epidemiology / Natural History (36%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (21%).