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Metadata
ID DOID:0111958
Name 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 CARD11 on chromosome 7p22.2.
https://pubmed.ncbi.nlm.nih.gov/28628108/
Xrefs

OMIM:617638

UMLS_CUI:C4539957

Synonyms

atopic dermatitis, elevated IgE, and eosinophilia [EXACT]

IMD11B [EXACT]

immunodeficiency 11B with atopic dermatitis [EXACT]

Parent Relationships

is_a T cell deficiency

is_a autosomal dominant disease

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