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

• NCI:C176630
• OMIM:617638
• UMLS_CUI:C4539957

Ontology

Human Disease   ( DOID:0111958 )