| Metadata | |
|---|---|
| ID | DOID:0111958 |
| Name | immunodeficiency 11B |
| 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. https://pubmed.ncbi.nlm.nih.gov/28628108/ |
| Xrefs | |
| Subsets |
NCIthesaurus |
| Synonyms |
atopic dermatitis, elevated IgE, and eosinophilia [EXACT] IMD11B [EXACT] immunodeficiency 11B with atopic dermatitis [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a T cell deficiency |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |