autoinflammation with arthritis and vasculitis
MONDO:0971173Mondo
Findings
No curated finding names autoinflammation with arthritis and vasculitis 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
HPO, annotations 2026-09-02
Features
35 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.
- ArthritisHPOHP:0001369
- 3 of 3 reported patients
- AutoimmunityHPOHP:0002960
- 4 of 4 reported patients
- Cerebral infarctHPOHP:0025722
- 1 of 1 reported patient
- Disproportionate short-limb short statureHPOHP:0008873
- 2 of 2 reported patients
- ExanthemHPOHP:4000054
- 1 of 1 reported patient
- Inflammatory abnormality of the skinHPOHP:0011123
- 1 of 1 reported patient
- Leukocytoclastic vasculitisHPOHP:0034786
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Nephrotic syndromeHPOHP:0000100
- 1 of 1 reported patient
- OsteomyelitisHPOHP:0002754
- 1 of 1 reported patient
- Recurrent sinusitisHPOHP:0011108
- 1 of 1 reported patient
- Recurrent urinary tract infectionsHPOHP:0000010
- 1 of 1 reported patient
Show the remaining 23
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- Vasculitis in the skinHPOHP:0200029
- 1 of 1 reported patient
- VentriculomegalyHPOHP:0002119
- 1 of 1 reported patient
- Microcytic anemiaHPOHP:0001935
- 3 of 4 reported patients
- Recurrent feverHPOHP:0001954
- 3 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 4 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.
- TBK1HGNC:11584
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of