title: OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH.
authors.affiliation: Department of Pediatric Immunology, Jeffrey Modell Center for Primary Immunodeficiencies, University of Florence and Anna Meyer Children's University Hospital, viale Pieraccini 24, 50139, Florence, Italy. slv.ricci@gmail.com.
authors.forename: Silvia
authors.identifier: 0000-0001-7140-1694
authors.initials: S
authors.lastname: Ricci
authors.affiliation: Department of Pediatric Immunology, Jeffrey Modell Center for Primary Immunodeficiencies, University of Florence and Anna Meyer Children's University Hospital, viale Pieraccini 24, 50139, Florence, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Romano
authors.affiliation: Department of Pediatric Immunology, Jeffrey Modell Center for Primary Immunodeficiencies, University of Florence and Anna Meyer Children's University Hospital, viale Pieraccini 24, 50139, Florence, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Nieddu
authors.affiliation: St Giles Laboratory of Human Genetics Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065, USA.|Laboratory of Human Genetics Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Paris Descartes University, Paris, France.|Pediatric Hematology-Immunology Unit, AP-HO, Necker Hospital for Sick Children, Paris, France.|Center for the Study of Primary Immunodeficiences, AP-HP, Necker Hospital for Sick Children, Paris, France.
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.affiliation: Department of Pediatric Immunology, Jeffrey Modell Center for Primary Immunodeficiencies, University of Florence and Anna Meyer Children's University Hospital, viale Pieraccini 24, 50139, Florence, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Azzari
mesh_terms: D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D017809:Fatal Outcome; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008209:Lymphedema / Q000175:diagnosis* / Q000235:genetics; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D016328:NF-kappa B / Q000378:metabolism; D010022:Osteopetrosis / Q000175:diagnosis* / Q000235:genetics; D000081207:Primary Immunodeficiency Diseases; D015398:Signal Transduction
chemical_list: C491731:IKBKG protein, human; D016328:NF-kappa B; D051550:I-kappa B Kinase