autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
MONDO:0018636Mondo
Findings
No curated finding names autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- Autoimmune thrombocytopeniaHPOHP:0001973
- Obligate (100% of cases)
- Autoimmune hemolytic anemiaHPOHP:0001890
- Very frequent (80% to 99% of cases)
- Decreased total lymphocyte countHPOHP:0001888
- Very frequent (80% to 99% of cases)
- HepatitisHPOHP:0012115
- Very frequent (80% to 99% of cases)
- LymphadenopathyHPOHP:0002716
- Very frequent (80% to 99% of cases)
- Moderate global developmental delayHPOHP:0011343
- Very frequent (80% to 99% of cases)
- Recurrent otitis mediaHPOHP:0000403
- Very frequent (80% to 99% of cases)
- Respiratory tract infectionHPOHP:0011947
- Very frequent (80% to 99% of cases)
- StrokeHPOHP:0001297
- Very frequent (80% to 99% of cases)
- Systemic lupus erythematosusHPOHP:0002725
- Very frequent (80% to 99% of cases)
- AutoimmunityHPOHP:0002960
- Frequent (30% to 79% of cases)
- HemiparesisHPOHP:0001269
- Frequent (30% to 79% of cases)
Show the remaining 2
- Hemolytic anemiaHPOHP:0001878
- Frequent (30% to 79% of cases)
- SplenomegalyHPOHP:0001744
- Frequent (30% to 79% of cases)
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.
- TPP2HGNC:12016
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
- Also called
- Evans syndrome associated with primary immunodeficiencyTPPII deficiencyTPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion diseasetriangle diseasetripeptidyl-peptidase II deficiency