FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 11B ID (Ontology) DOID:0111958 (Human Disease)
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.
Also Known As "atopic dermatitis, elevated IgE, and eosinophilia" ; "IMD11B" ; "immunodeficiency 11B with atopic dermatitis"
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autosomal genetic disease
 |__autosomal dominant disease____
primary immunodeficiency disease  |
 |__T cell deficiency_____________|
                                  immunodeficiency 11B
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Is a autosomal dominant disease
T cell deficiency
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Synonyms
  • "atopic dermatitis, elevated IgE, and eosinophilia" EXACT
    "IMD11B" EXACT OMO:0003012
    "immunodeficiency 11B with atopic dermatitis" EXACT
Secondary IDs
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MIM:617638
NCI:C176630
UMLS_CUI:C4539957