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GTR Home > Conditions/Phenotypes > Combined immunodeficiency due to MALT1 deficiency

Combined immunodeficiency due to MALT1 deficiency

Synonyms
Immunodeficiency 12
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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. [from ORDO]

Available tests

12 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IMD12, MLT, MLT1, PCASP1, MALT1
    Summary: MALT1 paracaspase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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