Combined immunodeficiency due to LRBA deficiency: genes and variants
Combined immunodeficiency due to LRBA deficiency is linked to 1 analyzed protein (LRBA). 3 DNA variants are known to cause it; 869 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 Combined immunodeficiency due to LRBA deficiency
LRBA: Lipopolysaccharide-responsive and beige-like anchor protein
It regulates intracellular trafficking of immune proteins, including recycling and preservation of CTLA-4 in regulatory T cells. Biallelic loss-of-function variants cause immune dysregulation with autoimmunity, lymphoproliferation, recurrent infection, and inflammatory bowel disease.
3 disease-causing and 869 uncertain variants in LRBA are linked to Combined immunodeficiency due to LRBA deficiency.
Known disease-causing variants in Combined immunodeficiency due to LRBA deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LRBA I2657S | 2657 | WD 3 | Disease-causing (★★) |
| LRBA I2651S | 2651 | WD 3 | Disease-causing (★★) |
| LRBA S1421G | 1421 | Disease-causing |
Frequently asked questions
Which genes are linked to Combined immunodeficiency due to LRBA deficiency?
In CATVariant, Combined immunodeficiency due to LRBA deficiency is linked to 1 analyzed protein: LRBA (Lipopolysaccharide-responsive and beige-like anchor protein).
How many genetic variants are linked to Combined immunodeficiency due to LRBA deficiency?
957 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 869 are of uncertain significance or have conflicting reports.
Which uncertain variants in Combined immunodeficiency due to LRBA 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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