A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy
Year: 2013
Type: article
Study design: Case Report
Source: Journal of Clinical Immunology
Authors: Lena F. Schimke, Nikolaus Rieber, Stacey Rylaarsdam, Otávio Cabral-Marques, Nicholas Hubbard, Anne Puel, Laura Kallmann, Stephanie Anover Sombke, Gundula Notheis, Hans-Peter Schwarz, Birgit Kammer, Tomas Hökfelt, Reinald Repp, Capucine Picard, Jean-Laurent Casanova, Bernd H. Belohradsky, Michael H. Albert, Hans D. Ochs, Ellen D. Renner, Troy R. Torgerson
Institutions: University of Washington, Seattle Children's Research Institute, University of Tübingen, Ludwig-Maximilians-Universität München, Universidade de São Paulo, Inserm, Human Genetic of Infectious Diseases, Université Paris Descartes, Karolinska Institutet, Klinikum Fulda, Hôpital Necker-Enfants Malades, Assistance Publique – Hôpitaux de Paris, Rockefeller University
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W1987563086