Term Name: | immunodeficiency 53 |
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Synonyms: | IMD53 |
Definition: | A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32. |
Ontology: | Human Disease [DOID:0111992] ( DOID:0111992 ) |