A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy

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