Combined immunodeficiency due to MALT1 deficiency: genes and variants
Combined immunodeficiency due to MALT1 deficiency is linked to 1 analyzed protein (MALT1). 2 DNA variants are known to cause it; 139 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 MALT1 deficiency
MALT1: Mucosa-associated lymphoid tissue lymphoma translocation protein 1
It provides both scaffold and protease functions in antigen-receptor signaling, enabling NF-kappaB activation downstream of the CARD11-BCL10 complex. Biallelic loss-of-function variants cause combined immunodeficiency, while constitutive MALT1 signaling contributes to selected lymphomas.
2 disease-causing and 139 uncertain variants in MALT1 are linked to Combined immunodeficiency due to MALT1 deficiency.
Known disease-causing variants in Combined immunodeficiency due to MALT1 deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MALT1 S89I | 89 | Death | Disease-causing |
| MALT1 W580S | 580 | Disease-causing |
Frequently asked questions
Which genes are linked to Combined immunodeficiency due to MALT1 deficiency?
In CATVariant, Combined immunodeficiency due to MALT1 deficiency is linked to 1 analyzed protein: MALT1 (Mucosa-associated lymphoid tissue lymphoma translocation protein 1).
How many genetic variants are linked to Combined immunodeficiency due to MALT1 deficiency?
151 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 139 are of uncertain significance or have conflicting reports.
Which uncertain variants in Combined immunodeficiency due to MALT1 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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