Term Name: | immunodeficiency 11B |
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Synonyms: | atopic dermatitis, elevated IgE, and eosinophilia, IMD11B, immunodeficiency 11B with atopic dermatitis |
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. |
Ontology: | Human Disease [DOID:0111958] ( DOID:0111958 ) |