Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 11B
DOID:0111958
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • atopic dermatitis, elevated IgE, and eosinophilia
  • IMD11B
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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