OBO ID: DOID:0111991 |
Term Name: | immunodeficiency 62 | Search Ontology: | |
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Definition: | A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2. https://pubmed.ncbi.nlm.nih.gov/30521495/ | ||
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Ontology: | Human Disease ( DOID:0111991 ) |
OTHER immunodeficiency 62 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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