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 )

Relationships
is a type of: autosomal recessive disease combined immunodeficiency