title: A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).
authors.affiliation: Department of Pediatrics, Baystate Medical Center Children's Hospital, Springfield, MA, USA. alicia.johnston@baystatehealth.org.
authors.forename: Alicia M
authors.initials: AM
authors.lastname: Johnston
authors.affiliation: Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Julie
authors.initials: J
authors.lastname: Niemela
authors.affiliation: Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Sergio D
authors.initials: SD
authors.lastname: Rosenzweig
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, MA, USA.
authors.forename: Ari J
authors.initials: AJ
authors.lastname: Fried
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, MA, USA.
authors.forename: Ottavia Maria
authors.initials: OM
authors.lastname: Delmonte
authors.affiliation: Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Thomas A
authors.initials: TA
authors.lastname: Fleisher
authors.affiliation: Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Hyesun
authors.initials: H
authors.lastname: Kuehn
mesh_terms: D004476:Ectodermal Dysplasia / Q000235:genetics*; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009035:Mothers; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: C491731:IKBKG protein, human; D051550:I-kappa B Kinase