Features include always present findings: Decreased body weight, Delayed skeletal maturation, Mastoiditis, and Recurrent lower respiratory tract infections and others. 20 total HPO annotations.

MALT1 encodes MALT1 paracaspase (824 aa). Protease that enhances BCL10-induced activation: acts via formation of CBM complexes that channel adaptive and innate immune signaling downstream of CARD domain-containing proteins (CARD9, CARD11 and CARD14) to activate NF-kappa-B and MAP kinase p38 pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines. Highest expression in Cells EBV-transformed lymphocytes (45.8 TPM) and Prostate (21.0 TPM).

Combined immunodeficiency due to MALT1 deficiency is caused by mutations in the MALT1 gene on chromosome 18.

The MALT1 protein participates in MALT1 oligomerizes, Oligomerization of BCL10 and MALT1, and Interaction and oligomerization of MALT1 to Bcl10 pathways.

MALT1 is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, and Protease categories) with score 17.4.

Genetic testing for MALT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for combined immunodeficiency due to MALT1 deficiency has been reported in the published literature.

Phenotype severity distribution: 19 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for combined immunodeficiency due to MALT1 deficiency.

128 publications have been identified in PubMed for combined immunodeficiency due to MALT1 deficiency. Research spans Epidemiology / Natural History (30%), Basic Science / Preclinical (22%), and Review / Meta-Analysis (20%).