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Document type:
journal article 
Author(s):
Ammann, Sandra; Lehmberg, Kai; Zur Stadt, Udo; Klemann, Christian; Bode, Sebastian F N; Speckmann, Carsten; Janka, Gritta; Wustrau, Katharina; Rakhmanov, Mirzokhid; Fuchs, Ilka; Hennies, Hans C; Ehl, Stephan; HLH study of the GPOH; Ahlmann, Martina; Ammann, Roland; Behrends, Uta; Beier, Rita; von Bernuth, Horst; Beutel, Karin; Burkhardt, Birgit; Cario, Gunnar; Classen, Carl-Friedrich; Dürken, Matthias; Ebinger, Martin; Greil, Johann; Groß-Wieltsch, Ute; Gruhn, Bernd; Holter, Wolfgang; Hundsdörfe...    »
 
Title:
Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis. 
Abstract:
We report our experience in using flow cytometry-based immunological screening prospectively as a decision tool for the use of genetic studies in the diagnostic approach to patients with hemophagocytic lymphohistiocytosis (HLH). We restricted genetic analysis largely to patients with abnormal immunological screening, but included whole exome sequencing (WES) for those with normal findings upon Sanger sequencing. Among 290 children with suspected HLH analyzed between 2010 and 2014 (including 17 a...    »
 
Journal title abbreviation:
J Clin Immunol 
Year:
2017 
Journal volume:
37 
Journal issue:
Pages contribution:
770-780 
Language:
eng 
Print-ISSN:
0271-9142 
TUM Institution:
Klinik und Poliklinik für Kinder- und Jugendmedizin