Search Ontology:
Human Disease

immunodeficiency 62

Term ID
DOID:0111991
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. https://pubmed.ncbi.nlm.nih.gov/30521495/
References
Ontology
Human Disease   ( DOID:0111991 )
Relationships
is a type of
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Genes Involved
Zebrafish Models