immunodeficiency 97 with autoinflammation
MONDO:0030717Mondo
Findings
No curated finding names immunodeficiency 97 with autoinflammation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
39 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.
- Abdominal painHPOHP:0002027
- 1 of 1 reported patient
- Autoimmune hemolytic anemiaHPOHP:0001890
- 1 of 1 reported patient
- Autoimmune neutropeniaHPOHP:0001904
- 1 of 1 reported patient
- Bronchiolitis obliterans organizing pneumoniaHPOHP:0011945
- 1 of 1 reported patient
- ColitisHPOHP:0002583
- 1 of 1 reported patient
- Decreased CD8+ TEMRA T cell proportionHPOHP:0500266
- 1 of 1 reported patient
- Decreased circulating IgA concentrationHPOHP:0002720
- 2 of 2 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 2 of 2 reported patients
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 1 of 1 reported patient
- Decreased regulatory T cell proportionHPOHP:0020113
- 1 of 1 reported patient
- Decreased total CD8+ T cell proportionHPOHP:0005415
- 1 of 1 reported patient
- Decreased total lymphocyte countHPOHP:0001888
- 2 of 2 reported patients
Show the remaining 27
- Decreased total monocyte countHPOHP:0012312
- 2 of 2 reported patients
- DiarrheaHPOHP:0002014
- 1 of 1 reported patient
- Eczematoid dermatitisHPOHP:0000964
- 1 of 1 reported patient
- EnterocolitisHPOHP:0004387
- 1 of 1 reported patient
- FatigueHPOHP:0012378
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 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.
- PIK3CGHGNC:8978
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Moderate · ClinGen · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency 97 with autoinflammation
- Also called
- IMD97