|OBO ID: DOID:0111948|
|Term Name:||immunodeficiency 46||Search Ontology:|
|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 TFRC on chromosome 3q29. https://pubmed.ncbi.nlm.nih.gov/26642240/|
|Ontology:||Human Disease (DOID:0111948)|
|is a type of:||
OTHER immunodeficiency 46 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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