Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 15A
DOID:0111960
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency 15A

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.
Synonyms
  • IMD15A
Cross References
Parent Terms
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None
Sources of Associations

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