Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis

Journal of Clinical Immunology

Volumn 37, Issue 8, 2017, Pages 770-780

  Ammann, Sandra ^a,b   Lehmberg, Kai ^c   zur Stadt, Udo ^c   Klemann, Christian ^a   Bode, Sebastian F N ^a,b   Speckmann, Carsten ^a,b   Janka, Gritta ^c   Wustrau, Katharina ^c   Rakhmanov, Mirzokhid ^a,d   Fuchs, Ilka ^a   Hennies, Hans C ^e,f,g   Ehl, Stephan ^a,b   Ahlmann, Martina ^h   Ammann, Roland ^h   Behrends, Uta ^h   Beier, Rita ^h   von Bernuth, Horst ^h   Beutel, Karin ^h   Burkhardt, Birgit ^h   Cario, Gunnar ^h   Classen, Carl Friedrich ^h   Dürken, Matthias ^h   Ebinger, Martin ^h   Greil, Johann ^h   Groß Wieltsch, Ute ^h   Gruhn, Bernd ^h   Holter, Wolfgang ^h   Hundsdörfer, Patrick ^h   Kühnle, Ingrid ^h   Jorch, Norbert ^h   Kolb, Reinhard ^h   Kühl, Jörn Sven ^h   Maecker, Britta ^h   Meisel, Roland ^h   Minkov, Milen ^h   Müller, Ingo ^h   Niehuis, Tim ^h   Pachlopnik Schmid, Jana ^h   Pekrun, Arnulf ^h   Prokop, Aram ^h   Rischewski, Johannes ^h   Schmid, Irene ^h   Schulz, Ansgar ^h   Schlegel, Paul Gerhardt ^h   Schündeln, Michael ^h   Seidel, Markus ^h   Simon, Thorsten ^h   Sörensen, Jan ^h   Chada, Martin ^h   Suttorp, Meinolf ^h   Woessmann, Wilhelm ^h   more..

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d Center for Human Genetics and Laboratory Diagnostics (AHC)   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f UNIVERSITY OF COLOGNE   (Germany)

^g UNIVERSITY OF HUDDERSFIELD   (United Kingdom)

^h NONE

Author keywords

degranulation; diagnosis; flow cytometry; Hemophagocytic lymphohistocytosis; whole exome sequencing

Indexed keywords

PERFORIN; SIGNALING LYMPHOCYTE ACTIVATION MOLECULE ASSOCIATED PROTEIN; X LINKED INHIBITOR OF APOPTOSIS; FHL2 PROTEIN, HUMAN; FHL3 PROTEIN, HUMAN; LIM HOMEODOMAIN PROTEIN; LIM PROTEIN; MUSCLE PROTEIN; SIGNAL PEPTIDE; TRANSCRIPTION FACTOR;

ARTICLE; CHEDIAK HIGASHI SYNDROME; CHILD; COHORT ANALYSIS; DEGRANULATION; FLOW CYTOMETRY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HEMOPHAGOCYTIC SYNDROME; HUMAN; IMMUNOGENETICS; MAJOR CLINICAL STUDY; NATURAL KILLER CELL; PRIORITY JOURNAL; PROSPECTIVE STUDY; SANGER SEQUENCING; WHOLE EXOME SEQUENCING; ASYMPTOMATIC DISEASE; GENETICS; IMMUNOLOGY; METABOLISM; MUTATION; ORGAN TRANSPLANTATION; PRACTICE GUIDELINE; PROGNOSIS; SIBLING;

ASYMPTOMATIC DISEASES; CELL DEGRANULATION; CHILD; FLOW CYTOMETRY; GENETIC TESTING; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KILLER CELLS, NATURAL; LIM DOMAIN PROTEINS; LIM-HOMEODOMAIN PROTEINS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MUSCLE PROTEINS; MUTATION; ORGAN TRANSPLANTATION; PRACTICE GUIDELINES AS TOPIC; PROGNOSIS; PROSPECTIVE STUDIES; SIBLINGS; TRANSCRIPTION FACTORS; WHOLE EXOME SEQUENCING;

EID: 85029712993     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-017-0443-1     Document Type: Article

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