immunodeficiency 12

info · Immune

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.

Signs and symptoms

Decreased body weight
Delayed skeletal maturation
Mastoiditis
Recurrent lower respiratory tract infections
Short stature
Esophageal stricture
Bronchiectasis
Complete or near-complete absence of specific antibody response to tetanus vaccine
Absent circulating isohemagglutinin
Recurrent aphthous stomatitis

Also known as: IMD12; combined immunodeficiency due to MALT1 deficiency