combined immunodeficiency due to MALT1 deficiency
Findings
No curated finding names combined immunodeficiency due to MALT1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.
Definition from the Mondo Disease Ontology (MONDO:0014197), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Death in adolescence
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent circulating isohemagglutininHPOHP:0410293
- 2 of 2 reported patients
- BronchiectasisHPOHP:0002110
- 3 of 3 reported patients
- CheilitisHPOHP:0100825
- 1 of 1 reported patient
- ClubbingHPOHP:0001217
- 1 of 1 reported patient
- Complete or near-complete absence of specific antibody response to tetanus vaccineHPOHP:0410295
- 2 of 2 reported patients
- Decreased anti-CD3/28-induced T-cell proliferationHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MALT1HGNC:6819
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: combined immunodeficiency due to MALT1 deficiency
- Also called
- immunodeficiency type 12