Living with Combined immunodeficiency due to MALT1 deficiency
A rare inherited immune condition with slow growth, repeated lung infections and bowel inflammation starting in infancy.
Understanding Combined immunodeficiency due to MALT1 deficiency
Babies grow slowly and have early repeated lung infections that can lead to widened airways (bronchiectasis). People can also have inflammation of the digestive tract, rash, dermatitis and skin infections.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated bacterial and viral infections
- Repeated chest infections
- Widened airways in the lungs (bronchiectasis)
- Slow growth and short stature
- Skin rash
- Finger and toe clubbing
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 allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in MALT1 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
- 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 Immune Deficiency Foundation
- 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
Changes in the MALT1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: immunodeficiency 12; immunodeficiency type 12
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Combined immunodeficiency due to MALT1 deficiency.
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