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Titel:

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency.

Dokumenttyp:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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
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:
5
Seitenangaben Beitrag:
1376-83.e3
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.jaci.2013.02.012
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/23561803
Print-ISSN:
0091-6749
TUM Einrichtung:
Institut für Klinische Chemie und Pathobiochemie
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