Term Name: immunodeficiency 15A
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.
Ontology: Human Disease [DOID:0111960]   ( DOID:0111960 )

Relationships
is a type of: autosomal dominant disease combined T cell and B cell immunodeficiency