immunodeficiency 11B (DOID:0111958)
Alliance: disease page
Synonyms: atopic dermatitis, elevated IgE, and eosinophilia; IMD11B; immunodeficiency 11B with atopic dermatitis
Alt IDs: OMIM:617638, NCI:C176630, UMLS_CUI:C4539957
Definition: 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.