Immunoglobulin A deficiency 2: genes and variants
Immunoglobulin A deficiency 2 is linked to 1 analyzed protein (TNFRSF13B). 1 DNA variants are known to cause it; 11 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 Immunoglobulin A deficiency 2
TNFRSF13B: Tumor necrosis factor receptor superfamily member 13B
It responds to BAFF and APRIL and regulates B-cell survival, antibody production, and immunoglobulin class switching. Pathogenic variants are enriched in common variable immunodeficiency and can contribute to antibody deficiency, although penetrance is incomplete for many heterozygous alleles.
1 disease-causing and 11 uncertain variants in TNFRSF13B are linked to Immunoglobulin A deficiency 2.
Known disease-causing variants in Immunoglobulin A deficiency 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TNFRSF13B A181E | 181 | Transmembrane | Disease-causing |
Diseases related to Immunoglobulin A deficiency 2
- Immunodeficiency, common variable, 10, also linked to TNFRSF13B
- Common variable immunodeficiency, also linked to TNFRSF13B
Frequently asked questions
Which genes are linked to Immunoglobulin A deficiency 2?
In CATVariant, Immunoglobulin A deficiency 2 is linked to 1 analyzed protein: TNFRSF13B (Tumor necrosis factor receptor superfamily member 13B).
How many genetic variants are linked to Immunoglobulin A deficiency 2?
20 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 11 are of uncertain significance or have conflicting reports.
Which uncertain variants in Immunoglobulin A deficiency 2 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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