Term Name: | immunodeficiency 12 |
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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 ) |