OBO ID: DOID:0111958 |
Term Name: | immunodeficiency 11B | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0111958 ) |
OTHER immunodeficiency 11B PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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