OBO ID: DOID:0112005 |
Term Name: | immunodeficiency 70 | Search Ontology: | |
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Definition: | A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. https://pubmed.ncbi.nlm.nih.gov/32499645/ | ||
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Ontology: | Human Disease ( DOID:0112005 ) |
OTHER immunodeficiency 70 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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