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DO Term : immunodeficiency 11B [DOID:0111958] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • 617638,
  • immunodeficiency 11B with atopic dermatitis,
  • OMIM:617638,
  • NCI:C176630,
  • IMD11B,
  • atopic dermatitis, elevated IgE, and eosinophilia,
  • UMLS_CUI:C4539957
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