Article
Deficiency of innate and acquired immunity caused by an IKBKB mutation.
The New England journal of medicine - 26 Dec 2013
Pannicke Ulrich, Baumann Bernd, Fuchs Sebastian, Henneke Philipp, Rensing-Ehl Anne, Rizzi Marta, Janda Ales, Hese Katrin, Schlesier Michael, Holzmann Karlheinz, Borte Stephan, Laux Constanze, Rump Eva-Maria, Rosenberg Alan, Zelinski Teresa, Schrezenmeier Hubert, Wirth Thomas, Ehl Stephan, Schroeder Marlis L, Schwarz Klaus
Abstract excerpt
BACKGROUND: Severe combined immunodeficiency (SCID) comprises a heterogeneous group of heritable deficiencies of humoral and cell-mediated immunity. Many patients with SCID have lymphocyte-activation defects that remain uncharacterized. METHODS: We performed genetic studies in four patients, from four families of Northern Cree ancestry, who had clinical characteristics of SCID, including early onset of severe...
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