ectodermal dysplasia and immunodeficiency 1

Term ID

DOID:0081078

Synonyms

Definition

An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28. https://pubmed.ncbi.nlm.nih.gov/31965418/

References

• OMIM:300291
• ORDO:69088

Ontology

Human Disease   ( DOID:0081078 )