OBO ID: DOID:0111991
Term Name: immunodeficiency 62 Search Ontology:
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 ARHGEF1 on chromosome 19q13.2. https://pubmed.ncbi.nlm.nih.gov/30521495/
References:
Ontology: Human Disease   (DOID:0111991)
OTHER immunodeficiency 62 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ARHGEF1 ?Immunodeficiency 62 618459
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None