Search Ontology:
Human Disease

immunodeficiency 61

Term ID
DOID:0111999
Synonyms
  • IMD61
Definition
A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12. https://pubmed.ncbi.nlm.nih.gov/29636373/
References
Ontology
Human Disease   ( DOID:0111999 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models