Overview
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency (also called CTLA-4 haploinsufficiency with autoimmune infiltration, or CHAI disease) is a rare genetic condition that affects the immune system. It is caused by having one faulty copy of the CTLA4 gene, which normally acts as a brake on immune cells. Without this brake working properly, immune cells become overactive and can attack the body's own healthy tissues. People with this condition often experience a wide range of problems because the overactive immune system can affect many organs. Common issues include enlarged lymph nodes and spleen, low blood cell counts (especially low platelets and red blood cells), frequent infections, lung disease, and gut problems like chronic diarrhea. The disease can also cause organ infiltration, where immune cells build up in organs like the lungs, brain, or liver and cause damage over time. Symptoms can vary greatly even within the same family — some people may have mild problems while others have serious complications. Treatment focuses on controlling the overactive immune system. Targeted therapies like abatacept (a medication that replaces the missing CTLA-4 function) have shown promising results. Other treatments include immunosuppressive drugs, immunoglobulin replacement therapy for those with antibody deficiency, and careful management of autoimmune complications. Early diagnosis and treatment are important to prevent organ damage.
Also known as:
Key symptoms:
Enlarged lymph nodes (swollen glands)Enlarged spleenLow platelet count causing easy bruising or bleedingLow red blood cell count (anemia) causing fatigue and palenessChronic diarrhea or stomach problemsFrequent or unusual infectionsLung problems including coughing and shortness of breathAutoimmune thyroid diseaseSkin rashes or other skin problemsHeadaches or neurological symptoms from brain inflammationLiver problemsLow antibody levels making infections more likelyJoint pain or swellingUnexplained weight lossType 1 diabetes or other autoimmune conditions
Clinical phenotype terms (31)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventGuangzhou University of Traditional Chinese Medicine — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 lymphoproliferative syndrome due to CTLA4 haploinsuffiency.
Community
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Start the conversation →Latest news about Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Disease timeline:
New recruiting trial: XCHT for Irinotecan-Induced Gut Toxicities (Randomized Controlled Trial)
A new clinical trial is recruiting patients for Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Caregiver Resources
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Mental Health Support
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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.Which of my organs are currently affected, and how will you monitor them over time?,Would abatacept be an appropriate treatment for me, and how would we access it?,Do I need immunoglobulin replacement therapy based on my antibody levels?,Should my family members be tested for the CTLA4 gene change, even if they seem healthy?,What signs or symptoms should prompt me to seek emergency care?,Are there any clinical trials or new treatments I should know about?,How often will I need blood tests and follow-up appointments?
Common questions about Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
What is Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency?
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency (also called CTLA-4 haploinsufficiency with autoimmune infiltration, or CHAI disease) is a rare genetic condition that affects the immune system. It is caused by having one faulty copy of the CTLA4 gene, which normally acts as a brake on immune cells. Without this brake working properly, immune cells become overactive and can attack the body's own healthy tissues. People with this condition often experience a wide range of problems because the overactive immune system can affect many organs. Common issues include enlarged
How is Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency inherited?
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency?
Yes — 1 recruiting clinical trial is currently listed for Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency?
2 specialists and care centers treating Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.