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

• MIM:618459
• UMLS_CUI:C5193109

Ontology

Human Disease   ( DOID:0111991 )