OBO ID: DOID:0111958
Term Name: immunodeficiency 11B Search Ontology:
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. https://pubmed.ncbi.nlm.nih.gov/28628108/
References:
Ontology: Human Disease   ( DOID:0111958 )
OTHER immunodeficiency 11B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CARD11 Immunodeficiency 11B with atopic dermatitis 617638
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None