immunodeficiency 12 (DOID:0111988)
Alliance: disease page
Synonyms: combined immunodeficiency due to MALT1 deficiency; IMD12
Alt IDs: OMIM:615468, ORDO:397964
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.