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Metadata
ID	DOID:0111960
Name	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. https://pubmed.ncbi.nlm.nih.gov/30337470/
Xrefs	OMIM:618204 UMLS_CUI:C4748694
Synonyms	IMD15A [EXACT]
Parent Relationships	is_a combined T cell and B cell immunodeficiency is_a autosomal dominant disease