OBO ID: DOID:0111948 |
Term Name: | immunodeficiency 46 | Search Ontology: | |
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Definition: | A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. https://pubmed.ncbi.nlm.nih.gov/26642240/ | ||
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Ontology: | Human Disease ( DOID:0111948 ) |
OTHER immunodeficiency 46 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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