severe combined immunodeficiency due to IKK2 deficiency
Findings
No curated finding names severe combined immunodeficiency due to IKK2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.
Definition from the Mondo Disease Ontology (MONDO:0014267), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset
HPO, annotations 2026-09-02
Features
10 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, annotations 2026-09-02.
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 4 of 4 reported patients
- Recurrent infectionsHPOHP:0002719
- 4 of 4 reported patients
- Recurrent oral thrushHPOHP:0009098
- 4 of 4 reported patients
- AgammaglobulinemiaHPOHP:0004432
- 3 of 4 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 4 reported patients
- Reduced total natural killer cell countHPO
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.
- IKBKBHGNC:5960
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: severe combined immunodeficiency due to IKK2 deficiency
- Also called
- immunodeficiency 15Bimmunodeficiency type 15SCID due to IKK2 deficiency