autoinflammatory syndrome with immunodeficiency
MONDO:0800130Mondo
Findings
No curated finding names autoinflammatory syndrome with immunodeficiency 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
- Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
17 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.
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 7 of 10 reported patients
- Decreased marginal zone B cell proportionHPOHP:0030384
- 7 of 10 reported patients
- Anti-U1 ribonucleoprotein antibody positivityHPOHP:0033028
- 5 of 9 reported patients
- Antinuclear antibody positivityHPOHP:0003493
- 5 of 9 reported patients
- Anti-dsDNA antibody positivityHPOHP:0020151
- 3 of 9 reported patients
- Coombs-positive hemolytic anemiaHPOHP:0004844
- 3 of 9 reported patients
- Autoimmune thrombocytopeniaHPOHP:0001973
- 3 of 10 reported patients
- GlomerulonephritisHPOHP:0000099
- 2 of 10 reported patients
- LymphadenopathyHPOHP:0002716
- 2 of 10 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 10 reported patients
- Systemic lupus erythematosusHPOHP:0002725
- 2 of 10 reported patients
- Celiac diseaseHPOHP:0002608
- 1 of 10 reported patients
Show the remaining 5
- HepatomegalyHPOHP:0002240
- 1 of 10 reported patients
- Hodgkin lymphomaHPOHP:0012189
- 1 of 10 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 10 reported patients
- SpondylitisHPOHP:0033631
- 1 of 10 reported patients
- ThyroiditisHPOHP:0100646
- 1 of 10 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.
- SOCS1HGNC:19383
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025