Human genes for immunodeficiency 11B
Immunodeficiency 11B [DOID:0111958]
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.
Synonyms: immunodeficiency 11B, DOID:0111958, IMD11B, atopic dermatitis, elevated IgE, and eosinophilia, immunodeficiency 11B with atopic dermatitis ...