immunodeficiency 25

info · Immune

A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2.

Signs and symptoms

Decreased total T cell count
Increased total eosinophil count
Recurrent Candida infection
Increased circulating IgE concentration
Increased circulating IgM concentration
Protracted diarrhea
Recurrent herpes
Complete or near-complete absence of specific antibody response to tetanus vaccine
Increased circulating IgA concentration
Erythroderma

Also known as: IMD25; immunodeficiency due to defect in CD3-zeta