autoinflammation with episodic fever and immune dysregulation
MONDO:0968982Mondo
Findings
No curated finding names autoinflammation with episodic fever and immune dysregulation 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
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
14 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.
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 1 of 1 reported patient
- Increased total leukocyte countHPOHP:0001974
- 1 of 1 reported patient
- LymphadenopathyHPOHP:0002716
- 2 of 2 reported patients
- Recurrent feverHPOHP:0001954
- 2 of 2 reported patients
- ArthritisHPOHP:0001369
- 1 of 2 reported patients
- Chronic otitis mediaHPOHP:0000389
- 1 of 2 reported patients
- ColitisHPOHP:0002583
- 1 of 2 reported patients
- HematocheziaHPOHP:0002573
- 1 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 2 reported patients
- Increased hepatic glycogen contentHPOHP:0006568
- 1 of 2 reported patients
- ParotitisHPOHP:0011850
- 1 of 2 reported patients
- SplenomegalyHPOHP:0001744
- 1 of 2 reported patients
Show the remaining 2
- Autoimmune antibody positivityHPOHP:0030057
- 0 of 2 reported patients
- Complete or near-complete absence of specific antibody response to tetanus vaccineHPOHP:0410295
- 0 of 2 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.
- SHARPINHGNC:25321
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of