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Dokumenttyp:
journal article 
Autor(en):
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 
Titel:
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...    »
 
Zeitschriftentitel:
J Allergy Clin Immunol 
Jahr:
2013 
Band / Volume:
131 
Heft / Issue:
Seitenangaben Beitrag:
1376-83.e3 
Sprache:
eng 
Print-ISSN:
0091-6749 
TUM Einrichtung:
Institut für Klinische Chemie und Pathobiochemie