platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Findings
No curated finding names platelet abnormalities with eosinophilia and immune-mediated inflammatory disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A multisytem disorder caused by a variation in the ARPC1B gene, characterized by recurrent bacterial and viral infections beginning in infancy or early childhood, accompanied by inflammatory manifestations such as vasculitis, eczema, colitis, hepatosplenomegaly, and systemic autoinflammation. Affected individuals show congenital thrombocytopenia with variable platelet abnormalities including small, misshapen platelets and dense‑granule defect, and additional laboratory findings such as eosinophilia and elevated IgE or IgA. Functional studies demonstrate defects in neutrophil and T‑cell chemotaxis and impaired T‑cell activation caused by abnormal F‑actin polymerization, consistent with loss of ARPC1B function.
Definition from the Mondo Disease Ontology (MONDO:0060583), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile 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.
- Perinuclear antineutrophil antibody positivityHPOHP:0032229
- 3 of 3 reported patients
- Skin rashHPOHP:0000988
- 3 of 3 reported patients
- Antinuclear antibody positivityHPOHP:0003493
- 2 of 3 reported patients
- BlepharitisHPOHP:0000498
- 1 of 3 reported patients
- Bloody diarrheaHPOHP:0025085
- 1 of 3 reported patients
- CellulitisHPOHP:0100658
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.
- ARPC1BHGNC:704
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
- Also called
- ARPC1B-related platelet disorder with immune-mediated inflammatory diseaseimmunodeficiency 71 with inflammatory disease and congenital thrombocytopeniaPLTEID