immunodeficiency 84
MONDO:0030333Mondo
Findings
No curated finding names immunodeficiency 84 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 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 total B cell countHPOHP:0010976
- 3 of 3 reported patients
- B-cell lymphomaHPOHP:0012191
- 2 of 3 reported patients · Young adult onset
- Recurrent bacterial infectionsHPOHP:0002718
- 2 of 3 reported patients
- Perianal abscessHPOHP:0009789
- 1 of 3 reported patients · Childhood onset
- Persistent EBV viremiaHPOHP:0020072
- 1 of 3 reported patients
- SplenomegalyHPOHP:0001744
- 1 of 3 reported patients · Adult onset
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.
- IKZF3HGNC:13178
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2023
- Limited · Ambry Genetics · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: immunodeficiency 84
- Also called
- IMD84immunodeficiency due to IKZF3 deficiency