autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
MONDO:0013944Mondo
Findings
No curated finding names autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 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
- Infantile 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.
- ArthralgiaHPOHP:0002829
- 2 of 2 reported patients
- CellulitisHPOHP:0100658
- 2 of 2 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 2 of 2 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 2 of 2 reported patients
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 2 of 2 reported patients
- EnterocolitisHPOHP:0004387
- 2 of 2 reported patients
- ErythemaHPOHP:0010783
- 2 of 2 reported patients
- Interstitial pneumonitisHPOHP:0006515
- 2 of 2 reported patients
- Recurrent sinopulmonary infectionsHPOHP:0005425
- 2 of 2 reported patients
- Unusual bronchiolitisHPOHP:0011950
- 2 of 2 reported patients
- CataractHPOHP:0000518
- 1 of 2 reported patients
- Corneal erosionHPOHP:0200020
- 1 of 2 reported patients
Show the remaining 2
- Ulcerative colitisHPOHP:0100279
- 1 of 2 reported patients
- Immune dysregulationHPOHP:0002958
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.
- PLCG2HGNC:9066
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2024
Where it sits
Other names
1 name
Resolves to: autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
- Also called
- APLAID