Article
Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.
Journal of clinical immunology - 1 Nov 2017
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
Abstract excerpt
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....
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