autoinflammation and autoimmunity with immune dysregulation 1
MONDO:0700391Mondo
Findings
No curated finding names autoinflammation and autoimmunity with immune dysregulation 1 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
15 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 pulmonary interstitial morphologyHPOHP:0006530
- 9 of 9 reported patients
- Hemosiderin-laden macrophages in bronchoalveolar fluidHPOHP:0032979
- 1 of 1 reported patient
- Restrictive ventilatory defectHPOHP:0002091
- 8 of 8 reported patients
- ArthritisHPOHP:0001369
- 20 of 21 reported patients
- Antinuclear antibody positivityHPOHP:0003493
- 7 of 9 reported patients
- Pulmonary hemorrhageHPOHP:0040223
- 7 of 9 reported patients
- Crescentic glomerulonephritisHPOHP:0008653
- 2 of 4 reported patients
- Mesangial hypercellularityHPOHP:0012574
- 1 of 4 reported patients
- ArthralgiaHPOHP:0002829
- 5 of 21 reported patients · Childhood onset
- CoughHPOHP:0012735
- 2 of 9 reported patients
- TachypneaHPOHP:0002789
- 2 of 9 reported patients
- DyspneaHPOHP:0002094
- 1 of 9 reported patients
Show the remaining 3
- Decreased DLCOHPOHP:0045051
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- Elevated erythrocyte sedimentation rateHPOHP:0003565