A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy

Schimke, Lena F.; Rieber, Nikolaus; Rylaarsdam, Stacey; Cabral-Marques, Otavio; Hubbard, Nicholas; Puel, Anne; Kallmann, Laura; Sombke, Stephanie Anover; Notheis, Gundula; Schwarz, Hans-Peter; Kammer, Birgit; Hokfelt, Tomas; Repp, Reinald; Picard, Capucine; Casanova, Jean-Laurent; Belohradsky, Bernd H.; Albert, Michael H.; Ochs, Hans D.; Renner, Ellen D.; Torgerson, Troy R.

A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy

Autor(en):

Schimke, Lena F.; Rieber, Nikolaus; Rylaarsdam, Stacey; Cabral-Marques, Otavio; Hubbard, Nicholas; Puel, Anne; Kallmann, Laura; Sombke, Stephanie Anover; Notheis, Gundula; Schwarz, Hans-Peter; Kammer, Birgit; Hokfelt, Tomas; Repp, Reinald; Picard, Capucine; Casanova, Jean-Laurent; Belohradsky, Bernd H.; Albert, Michael H.; Ochs, Hans D.; Renner, Ellen D.; Torgerson, Troy R.

Tübinger Autor(en):

Rieber, Nikolaus

Erschienen in:

Journal of Clinical Immunology (2013), Bd. 33, H. 6, S. 1088-1099

Verlagsangabe:

Springer/plenum Publishers

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1007/s10875-013-9906-1

ISSN:

0271-9142