| Term Name: | immunodeficiency 12 |
|---|---|
| Synonyms: | combined immunodeficiency due to MALT1 deficiency, IMD12 |
| Definition: | A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32. |
| Ontology: | Human Disease [DOID:0111988] ( DOID:0111988 ) |