title: Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO.
authors.affiliation: Department of Infectious Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: Sofie E
authors.initials: SE
authors.lastname: Jørgensen
authors.affiliation: International Center for Immunodeficiency Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: Pernille
authors.initials: P
authors.lastname: Bøttger
authors.affiliation: International Center for Immunodeficiency Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: Emil
authors.initials: E
authors.lastname: Kofod-Olsen
authors.affiliation: International Center for Immunodeficiency Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark; Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: Mette
authors.initials: M
authors.lastname: Holm
authors.affiliation: Department of Infectious Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: Nanna
authors.initials: N
authors.lastname: Mørk
authors.affiliation: Department of Molecular Medicine, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: Torben F
authors.initials: TF
authors.lastname: Ørntoft
authors.affiliation: Department of Biomedicine, Aarhus University, Aarhus, Denmark.
authors.forename: Uffe B S
authors.initials: UBS
authors.lastname: Sørensen
authors.affiliation: International Center for Immunodeficiency Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark; Department of Clinical Immunology, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: Jens Magnus
authors.initials: JM
authors.lastname: Bernth-Jensen
authors.affiliation: International Center for Immunodeficiency Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark; Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: Troels
authors.initials: T
authors.lastname: Herlin
authors.affiliation: International Center for Immunodeficiency Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark; Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: Jens
authors.initials: J
authors.lastname: Veirum
authors.affiliation: Department of Infectious Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark; International Center for Immunodeficiency Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: Carsten S
authors.initials: CS
authors.lastname: Larsen
authors.affiliation: Department of Infectious Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark; International Center for Immunodeficiency Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: Lars
authors.initials: L
authors.lastname: Østergaard
authors.affiliation: Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark; Aarhus Research Center for Innate Immunity, Aarhus University, Aarhus, Denmark.
authors.forename: Rune
authors.initials: R
authors.lastname: Hartmann
authors.affiliation: International Center for Immunodeficiency Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark; Department of Clinical Immunology, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: Mette
authors.initials: M
authors.lastname: Christiansen
authors.affiliation: Department of Infectious Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark; International Center for Immunodeficiency Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark; Department of Biomedicine, Aarhus University, Aarhus, Denmark; Aarhus Research Center for Innate Immunity, Aarhus University, Aarhus, Denmark. Electronic address: trinmoge@rm.dk.
authors.forename: Trine H
authors.initials: TH
authors.lastname: Mogensen
mesh_terms: D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008297:Male; D016328:NF-kappa B / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*
chemical_list: C491731:IKBKG protein, human; D016328:NF-kappa B; D051550:I-kappa B Kinase