immune dysregulation, autoimmunity, and autoinflammation
MONDO:0957790Mondo
Findings
No curated finding names immune dysregulation, autoimmunity, and autoinflammation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- 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.
- Abnormal circulating C-reactive protein concentrationHPOHP:0032436
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Antinuclear antibody positivityHPOHP:0003493
- 1 of 1 reported patient
- Cervical lymphadenopathyHPOHP:0025289
- 1 of 1 reported patient
- Decreased circulating complement C3 concentrationHPOHP:0005421
- 1 of 1 reported patient
- Decreased circulating complement C4 concentrationHPOHP:0045042
- 1 of 1 reported patient
- EcchymosisHPOHP:0031364
- 1 of 1 reported patient
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 1 of 1 reported patient
- EpistaxisHPOHP:0000421
- 1 of 1 reported patient
- Gingival bleedingHPOHP:0000225
- 1 of 1 reported patient
- Increased circulating interleukin 6 concentrationHPOHP:0030783
- 1 of 1 reported patient
- Increased circulating interleukin 8 concentrationHPOHP:0033178
- 1 of 1 reported patient
Show the remaining 2
- Inguinal lymphadenopathyHPOHP:0034751
- 1 of 1 reported patient
- PetechiaeHPOHP:0000967
- 1 of 1 reported patient
Genes
2 genes
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.
Where it sits
- A kind of