DISEASES

Disease-gene associations mined from literature

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 CARD11 on chromosome 7p22.2.

Synonyms:  immunodeficiency 11B,  DOID:0111958,  IMD11B,  atopic dermatitis, elevated IgE, and eosinophilia,  immunodeficiency 11B with atopic dermatitis ...