Overview
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency (sometimes called TPP2-related immunodeficiency) is a very rare inherited disease caused by changes in the TPP2 gene. This gene provides instructions for making an enzyme called tripeptidyl peptidase 2, which helps the immune system work properly and keeps blood cells healthy. When this enzyme is missing or does not work well, the immune system becomes confused and starts attacking the body's own red blood cells and platelets — the tiny cells that help blood clot. As a result, people with this condition develop two main blood problems: autoimmune hemolytic anemia (where red blood cells are destroyed too quickly, causing tiredness and paleness) and autoimmune thrombocytopenia (where platelets are destroyed, leading to easy bruising and bleeding). On top of this, the immune system is weakened overall, making it harder to fight off infections. This combination of problems — attacking itself while also being too weak to fight outside threats — is what makes this disease so challenging. Treatment focuses on calming the overactive immune response using medicines like steroids and other immune-suppressing drugs, and on preventing and treating infections. In some cases, a bone marrow transplant (also called a stem cell transplant) may be considered as a more lasting solution. Because this disease is so rare, treatment is highly individualized and managed by a team of specialists.
Also known as:
Key symptoms:
Extreme tiredness and low energy due to anemiaPale or yellowish skinEasy bruisingUnusual or prolonged bleeding from small cutsFrequent or severe infectionsEnlarged spleenEnlarged lymph nodesDark or tea-colored urineRapid or irregular heartbeatShortness of breathFever that keeps coming back
Clinical phenotype terms (14)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
7 eventsTurgutlu State Hospital — NA
First Affiliated Hospital Xi'an Jiaotong University — NA
University of Maryland, Baltimore — PHASE2
Sahlgrenska University Hospital — NA
Meyer Children's Hospital IRCCS
Washington University School of Medicine
Yale University — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency.
Community
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Start the conversation →Latest news about Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
Disease timeline:
New recruiting trial: Testing the Pain Clinical Practice Guideline
A new clinical trial is recruiting patients for Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
New trial: Pathogenetic Basis of Aortopathy and Aortic Valve Disease
Phase NA trial recruiting.
New trial: Artificial Intelligence in New Cardiac MR Markers for Congenital Heart Disease
Phase NA trial recruiting. Valvuloplasty,
Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific changes were found in the TPP2 gene, and what do they mean for my child's health?,What is the best treatment plan for my child right now, and how will we know if it is working?,Is a stem cell transplant an option for my child, and what are the risks and benefits?,How do we reduce the risk of serious infections, and what vaccines are safe to give?,What warning signs should make me take my child to the emergency room immediately?,Are there any clinical trials or research studies we should consider?,Should other family members be tested for this gene change?
Common questions about Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
What is Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency?
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency (sometimes called TPP2-related immunodeficiency) is a very rare inherited disease caused by changes in the TPP2 gene. This gene provides instructions for making an enzyme called tripeptidyl peptidase 2, which helps the immune system work properly and keeps blood cells healthy. When this enzyme is missing or does not work well, the immune system becomes confused and starts attacking the body's own red blood cells and platelets — the tiny cells that help blood clot. As a result, peop
How is Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency inherited?
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency typically begin?
Typical onset of Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency is childhood. Age of onset can vary across affected individuals.
Which specialists treat Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency?
4 specialists and care centers treating Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.