User: Guest  Login
Document type:
journal article 
Author(s):
Greil, Johann; Rausch, Tobias; Giese, Thomas; Bandapalli, Obul R; Daniel, Volker; Bekeredjian-Ding, Isabelle; Stütz, Adrian M; Drees, Christoph; Roth, Susanne; Ruland, Jürgen; Korbel, Jan O; Kulozik, Andreas E 
Title:
Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency. 
Abstract:
Primary immunodeficiencies represent model diseases for the mechanistic understanding of the human innate and adaptive immune response. They are clinically highly relevant per se because in patients with severe combined immunodeficiency (SCID), infections caused by opportunistic pathogens are typically life-threatening early in life.We aimed at defining and functionally characterizing a novel form of SCID in an infant of consanguineous parents who presented with life-threatening Pneumocystis jir...    »
 
Journal title abbreviation:
J Allergy Clin Immunol 
Year:
2013 
Journal volume:
131 
Journal issue:
Pages contribution:
1376-83.e3 
Language:
eng 
Print-ISSN:
0091-6749 
TUM Institution:
Institut für Klinische Chemie und Pathobiochemie