Overview
Combined immunodeficiency due to MALT1 deficiency is an extremely rare inherited disorder of the immune system. MALT1 (mucosa-associated lymphoid tissue lymphoma translocation protein 1) is a key protein involved in activating immune cells, especially T cells and B cells, which are critical for fighting infections. When the MALT1 gene does not work properly, the body cannot mount effective immune responses, leaving affected individuals highly vulnerable to infections. Children with this condition typically present early in life with recurrent and severe infections, including bacterial, viral, and fungal infections. Common problems include chronic skin infections, pneumonia, oral thrush (candidiasis), and gastrointestinal issues such as chronic diarrhea. Some patients also develop inflammatory skin conditions resembling eczema or dermatitis. Because both T cells and B cells are affected, the immune deficiency is classified as a "combined" immunodeficiency. Without treatment, this condition can be life-threatening. The main treatment options include aggressive management of infections with antibiotics and antifungal medications, immunoglobulin replacement therapy to boost antibody levels, and hematopoietic stem cell transplantation (bone marrow transplant), which is currently the only potentially curative approach. Early diagnosis and referral to an immunology specialist are essential for improving outcomes.
Key symptoms:
Frequent and severe infectionsChronic diarrheaOral thrush (white patches in the mouth from yeast infection)Recurrent pneumonia or lung infectionsChronic skin rashes or eczema-like skin inflammationFailure to thrive or poor weight gainRecurrent ear infectionsSwollen lymph nodesFever that keeps coming backSlow growth compared to other childrenSkin abscesses or boilsFungal infections of the skin or nails
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Combined immunodeficiency due to MALT1 deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Combined immunodeficiency due to MALT1 deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Combined immunodeficiency due to MALT1 deficiency.
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 Combined immunodeficiency due to MALT1 deficiency.
Community
No community posts yet. Be the first to share your experience with Combined immunodeficiency due to MALT1 deficiency.
Start the conversation →Latest news about Combined immunodeficiency due to MALT1 deficiency
No recent news articles for Combined immunodeficiency due to MALT1 deficiency.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.How severe is my child's immune deficiency based on current test results?,Is my child a candidate for bone marrow transplant, and when should we consider it?,What infections should I watch for, and when should I go to the emergency room?,What preventive medications does my child need, and are there side effects?,How often will my child need immunoglobulin replacement therapy?,Are there any clinical trials or new treatments being studied for this condition?,Should other family members be tested to see if they are carriers?
Common questions about Combined immunodeficiency due to MALT1 deficiency
What is Combined immunodeficiency due to MALT1 deficiency?
Combined immunodeficiency due to MALT1 deficiency is an extremely rare inherited disorder of the immune system. MALT1 (mucosa-associated lymphoid tissue lymphoma translocation protein 1) is a key protein involved in activating immune cells, especially T cells and B cells, which are critical for fighting infections. When the MALT1 gene does not work properly, the body cannot mount effective immune responses, leaving affected individuals highly vulnerable to infections. Children with this condition typically present early in life with recurrent and severe infections, including bacterial, viral,
How is Combined immunodeficiency due to MALT1 deficiency inherited?
Combined immunodeficiency due to MALT1 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Combined immunodeficiency due to MALT1 deficiency typically begin?
Typical onset of Combined immunodeficiency due to MALT1 deficiency is infantile. Age of onset can vary across affected individuals.