NIK deficiency
MONDO:0018642Mondo
Findings
No curated finding names NIK deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14).
Definition from the Mondo Disease Ontology (MONDO:0018642), read 2026-09-29. CC BY 4.0.
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- Decreased circulating immunoglobulin concentrationMondoHP:0004313
- Decreased total B cell countMondoHP:0010976
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MAP3K14HGNC:6853
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: NIK deficiency
- Also called
- MAP3K14 non-severe combined immunodeficiencynon-severe combined immunodeficiency caused by mutation in MAP3K14primary immunodeficiency with multifaceted aberrant lymphoid immunity