autoinflammation with episodic fever and lymphadenopathy
MONDO:0030018Mondo
Findings
No curated finding names autoinflammation with episodic fever and lymphadenopathy 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
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.
- Microcytic anemiaHPOHP:0001935
- 5 of 5 reported patients
- LymphadenopathyHPOHP:0002716
- 11 of 12 reported patients
- Recurrent feverHPOHP:0001954
- 11 of 12 reported patients
- SplenomegalyHPOHP:0001744
- 7 of 12 reported patients
- Oral ulcerHPOHP:0000155
- 8 of 14 reported patients
- Recurrent tonsillitisHPOHP:0011110
- 3 of 7 reported patients
- Abdominal painHPOHP:0002027
- 5 of 12 reported patients
- HepatomegalyHPOHP:0002240
- 3 of 12 reported patients
- Antinuclear antibody positivityHPOHP:0003493
- 1 of 7 reported patients
- Rheumatoid factor positiveHPOHP:0002923
- 1 of 7 reported patients
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.
- RIPK1HGNC:10019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: autoinflammation with episodic fever and lymphadenopathy
- Also called
- AIEFLCleavage-Resistant Ripk1-Induced Autoinflammatory SyndromeCria Syndrome