autoimmune disease, multisystem, infantile-onset, 2
Findings
No curated finding names autoimmune disease, multisystem, infantile-onset, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene.
Definition from the Mondo Disease Ontology (MONDO:0014861), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
10 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 circulating specific pneumococcal antibody concentrationHPOHP:0012476
- 1 of 1 reported patient
- Impaired phytohemagglutinin-induced T lymphocyte transformationHPOHP:0025834
- 2 of 2 reported patients
- Increased CD4:CD8 ratioHPOHP:0033221
- 2 of 2 reported patients
- Linear IgG deposits along the epidermal basement membrane zoneHPOHP:0031540
- 1 of 1 reported patient · Infantile onset
- Podocyte foot process effacementHPOHP:0031266
- 1 of 1 reported patient · Infantile onset
- ProteinuriaHPOHP:0000093
- 2 of 2 reported patients · Infantile onset
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.
- ZAP70HGNC:12858
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: autoimmune disease, multisystem, infantile-onset, 2
- Also called
- ADMIO2autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70autoimmune disease, multisystem, infantile-onset, 2; ADMIO2autoimmune disease, multisystem, infantile-onset, type 2ZAP70 autoimmune disease, multisystem, infantile-onset