Immunodeficiency, common variable, 10: genes and variants
Immunodeficiency, common variable, 10 is linked to 6 analyzed proteins (TNFRSF13B, NFKB2, TNFRSF13C, CD19, ICOS and NFKB1). 5 DNA variants are known to cause it; 574 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: immunodeficiency, common variable, 1; Immunodeficiency, common variable, 12; immunodeficiency, common variable, 2; immunodeficiency, common variable, 3; immunodeficiency, common variable, 4; Immunodeficiency, common variable, 5
Genes linked to Immunodeficiency, common variable, 10
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.
2 disease-causing and 144 uncertain variants in TNFRSF13B are linked to Immunodeficiency, common variable, 10.
NFKB2: Nuclear factor NF-kappa-B p100 subunit
Processing of its p100 precursor generates p52 for the noncanonical NF-kappaB pathway, which is important for lymphoid-organ development and B-cell biology. Pathogenic variants can cause common variable immunodeficiency with endocrine and autoimmune abnormalities.
1 disease-causing and 267 uncertain variants in NFKB2 are linked to Immunodeficiency, common variable, 10.
TNFRSF13C: Tumor necrosis factor receptor superfamily member 13C
It provides a crucial survival signal for transitional and mature B cells in response to BAFF. Biallelic loss-of-function variants can cause antibody deficiency with markedly reduced mature B-cell numbers.
1 disease-causing and 86 uncertain variants in TNFRSF13C are linked to Immunodeficiency, common variable, 10.
CD19: B-lymphocyte antigen CD19
It amplifies B-cell receptor signaling and helps set the threshold for B-cell activation throughout much of B-cell development. Loss-of-function variants can cause antibody deficiency, while its lineage-restricted surface expression makes it a major target for monoclonal antibodies and CAR-T therapy.
1 disease-causing and 23 uncertain variants in CD19 are linked to Immunodeficiency, common variable, 10.
ICOS: Inducible T-cell costimulator
It provides costimulatory signals to activated T cells, particularly supporting T-follicular-helper cells, germinal-center responses, and cytokine production. Biallelic loss-of-function variants can cause common-variable-immunodeficiency-like disease with defective antibody responses.
0 disease-causing and 38 uncertain variants in ICOS are linked to Immunodeficiency, common variable, 10.
NFKB1: Nuclear factor NF-kappa-B p105 subunit
It produces p105 and the p50 NF-kappaB subunit, which regulate transcriptional responses to immune receptors, cytokines, and cellular stress. Haploinsufficiency can cause common-variable-immunodeficiency-like disease with recurrent infection, autoimmunity, and variable lymphoproliferation.
0 disease-causing and 12 uncertain variants in NFKB1 are linked to Immunodeficiency, common variable, 10.
Weakly linked (only a few uncertain records): MS4A1.
Known disease-causing variants in Immunodeficiency, common variable, 10
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NFKB2 D865G | 865 | Disease-causing (★★) | |
| TNFRSF13C A52T | 52 | Extracellular | Disease-causing (★) |
| TNFRSF13B C104Y | 104 | TNFR-Cys 2 | Disease-causing |
| CD19 W52C | 52 | Ig-like C2-type 1 | Disease-causing |
| TNFRSF13B A181E | 181 | Transmembrane | Disease-causing |
Diseases related to Immunodeficiency, common variable, 10
- Common variable immunodeficiency, also linked to CD19, ICOS, NFKB1, NFKB2 and 1 more
- Primary ciliary dyskinesia, also linked to NFKB1
- Inherited Immunodeficiency Diseases, also linked to CD19
- Immunoglobulin A deficiency 2, also linked to TNFRSF13B
Frequently asked questions
Which genes are linked to Immunodeficiency, common variable, 10?
In CATVariant, Immunodeficiency, common variable, 10 is linked to 6 analyzed proteins: TNFRSF13B (Tumor necrosis factor receptor superfamily member 13B), NFKB2 (Nuclear factor NF-kappa-B p100 subunit), TNFRSF13C (Tumor necrosis factor receptor superfamily member 13C), CD19 (B-lymphocyte antigen CD19), ICOS (Inducible T-cell costimulator) and NFKB1 (Nuclear factor NF-kappa-B p105 subunit).
How many genetic variants are linked to Immunodeficiency, common variable, 10?
642 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 574 are of uncertain significance or have conflicting reports.
Which uncertain variants in Immunodeficiency, common variable, 10 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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