immunodeficiency 11B

info · Immune

A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2.

Signs and symptoms

Atopic dermatitis
Increased total eosinophil count
Increased circulating IgE concentration
Asthma
Pneumonia
Decreased circulating IgM concentration
Food allergy
Colonic eosinophilia
Bronchiectasis
Ulcerative colitis

Also known as: IMD11B; atopic dermatitis, elevated IgE, and eosinophilia; immunodeficiency 11B with atopic dermatitis