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immunodeficiency 11B
Summary
- Synonym
-
- IMD11B
- atopic dermatitis, elevated IgE, and eosinophilia
- 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.
- Super Class
- T cell deficiency autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111958
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- OMIM
