Living with Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
A rare genetic immune condition with repeated infections and autoimmune attacks on blood cells, starting in infancy or childhood.
Understanding Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
It starts in infancy or childhood. The immune system is weakened (combined immunodeficiency), causing repeated viral, bacterial, and fungal infections. Antibodies also destroy red blood cells, platelets, and neutrophils. People may have mild to moderate developmental delay. Lab tests show low T, B, and natural killer cells.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Autoimmune destruction of red blood cells (hemolytic anemia)
- Low platelets from autoimmunity (thrombocytopenia)
- Repeated infections, including ear and respiratory infections
- Enlarged spleen and swollen lymph nodes
- Moderate developmental delay
- Liver inflammation
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TPP2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with wAIHA Warriors and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the TPP2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: evans syndrome associated with primary immunodeficiency; tppii deficiency; tppii-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; triangle disease; tripeptidyl-peptidase ii deficiency
Patient organizations
- wAIHA WarriorsAutoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
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