Term Name: immunodeficiency 62
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 )

Relationships
is a type of: autosomal recessive disease B cell deficiency