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

• OMIM:618204
• UMLS_CUI:C4748694

Ontology

Human Disease   ( DOID:0111960 )