Severe combined immunodeficiency due to LCK deficiency: genes and variants
Severe combined immunodeficiency due to LCK deficiency is linked to 1 analyzed protein (LCK). 2 DNA variants are known to cause it; 73 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Severe combined immunodeficiency due to LCK deficiency
LCK: Tyrosine-protein kinase Lck
It phosphorylates the earliest signaling components downstream of the T-cell receptor and CD4 or CD8 coreceptors, making it essential for T-cell development and activation. Severe loss-of-function can cause combined immunodeficiency, while aberrant activity contributes to lymphoid malignancy.
2 disease-causing and 73 uncertain variants in LCK are linked to Severe combined immunodeficiency due to LCK deficiency.
Known disease-causing variants in Severe combined immunodeficiency due to LCK deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LCK P440S | 440 | Protein kinase | Disease-causing |
| LCK L341P | 341 | Protein kinase | Disease-causing |
Diseases related to Severe combined immunodeficiency due to LCK deficiency
- Renal cell carcinoma, also linked to LCK
Frequently asked questions
Which genes are linked to Severe combined immunodeficiency due to LCK deficiency?
In CATVariant, Severe combined immunodeficiency due to LCK deficiency is linked to 1 analyzed protein: LCK (Tyrosine-protein kinase Lck).
How many genetic variants are linked to Severe combined immunodeficiency due to LCK deficiency?
83 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 73 are of uncertain significance or have conflicting reports.
Which uncertain variants in Severe combined immunodeficiency due to LCK deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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