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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

OMIM:618459

UMLS_CUI:C5193109

Synonyms

IMD62 [EXACT]

Parent Relationships

is_a B cell deficiency

is_a autosomal recessive disease

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