Search Ontology:
Human Disease

immunodeficiency 15A

Term ID
DOID:0111960
Synonyms
  • IMD15A
Definition
A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21. https://pubmed.ncbi.nlm.nih.gov/30337470/
References
Ontology
Human Disease   ( DOID:0111960 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models