Search Ontology:
Human Disease

immunodeficiency 11B

Term ID
DOID:0111958
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 )
Relationships
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Genes Involved
Zebrafish Models