immunodeficiency 12

Term ID

DOID:0111988

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. (2)

References

• OMIM:615468
• ORDO:397964

Ontology

Human Disease   ( DOID:0111988 )