immunodysregulation with variable immunodeficiency and autoimmunity
MONDO:0979233Mondo
Findings
No curated finding names immunodysregulation with variable immunodeficiency and autoimmunity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
60 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.
- Anti-dsDNA antibody positivityHPOHP:0020151
- 1 of 1 reported patient
- ArthralgiaHPOHP:0002829
- 1 of 1 reported patient
- ArthritisHPOHP:0001369
- 2 of 2 reported patients
- Autoimmune thrombocytopeniaHPOHP:0001973
- 1 of 1 reported patient
- BronchiectasisHPOHP:0002110
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Cutaneous photosensitivityHPOHP:0000992
- 1 of 1 reported patient
- Decreased body weightHPOHP:0004325
- 1 of 1 reported patient
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 1 reported patient
- Decreased circulating IgG4 concentrationHPOHP:0032138
- 2 of 2 reported patients
- Decreased naive CD8+ T cell proportionHPOHP:0410377
- 2 of 2 reported patients
- Decreased total leukocyte countHPOHP:0001882
- 1 of 1 reported patient
Show the remaining 48
- Follicular hyperplasiaHPOHP:0002729
- 1 of 1 reported patient
- HypothyroidismHPOHP:0000821
- 3 of 3 reported patients
- ImmunodeficiencyHPOHP:0002721
- 2 of 2 reported patients
- Increased central memory CD8+ T cell proportionHPOHP:0410396
- 2 of 2 reported patients
- Increased circulating immunoglobulin concentrationHPOHP:0010702
- 1 of 1 reported patient
- Increased total leukocyte countHPOHP:0001974
- 1 of 1 reported patient
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.
- IKZF2HGNC:13177
- Strong · PanelApp Australia · Semidominant · 2025