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Metadata
ID	DOID:0111991
Name	immunodeficiency 62
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. https://pubmed.ncbi.nlm.nih.gov/30521495/
Xrefs	MIM:618459 UMLS_CUI:C5193109
Synonyms	IMD62 [EXACT]
Parent Relationships	is_a B cell deficiency is_a autosomal recessive disease