isolated immunodeficiency; pure immunodeficiency; immunodeficiency without anhidrotic ectodermal dysplasia

Genetics

• associated with defects in IKBKG

Clinical manifestations

• immunodeficiency not associated with other abnormalities
• increased infection susceptibility
• multiple episodes of infectious diseases

More general terms

• immunodeficiency; immunodeficiency syndrome

Database

• OMIM: https://mirror.omim.org/entry/300584