autoinflammation, immune dysregulation, and eosinophilia
MONDO:0033558Mondo
Findings
No curated finding names autoinflammation, immune dysregulation, and eosinophilia 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
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.
- AsthmaHPOHP:0002099
- 1 of 1 reported patient
- Atopic dermatitisHPOHP:0001047
- 4 of 4 reported patients
- Colonic eosinophiliaHPOHP:0031813
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Food allergyHPOHP:0500093
- 11 of 11 reported patients
- Hepatic cystsHPOHP:0001407
- 2 of 2 reported patients · Antenatal onset
- Increased total eosinophil countHPOHP:0001880
- 11 of 11 reported patients
- Membranous nephropathyHPOHP:0012578
- 1 of 1 reported patient
- Nephrotic syndromeHPOHP:0000100
- 1 of 1 reported patient
- Eosinophilic liver infiltrationHPOHP:0032021
- HepatosplenomegalyHPOHP:0001433
- HypothyroidismHPOHP:0000821
Show the remaining 2
- Recurrent viral infectionsHPOHP:0004429
- Short statureHPOHP:0004322
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.
- JAK1HGNC:6190
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of