Term Name: | immunodeficiency 62 |
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Synonyms: | IMD62 |
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. |
Ontology: | Human Disease [DOID:0111991] ( DOID:0111991 ) |