immunodeficiency 62 (DOID:0111991)
Alliance: disease page
Synonyms: IMD62
Alt IDs: OMIM:618459, UMLS_CUI:C5193109
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.