OBO ID: DOID:0111954 |
Term Name: | immunodeficiency 60 | Search Ontology: | |
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Definition: | A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. https://pubmed.ncbi.nlm.nih.gov/28530713/ | ||
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Ontology: | Human Disease ( DOID:0111954 ) |
OTHER immunodeficiency 60 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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