Haematologica (Jul 2015)
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis
- Sebastian FN Bode,
- Sandra Ammann,
- Waleed Al-Herz,
- Mihaela Bataneant,
- Christopher C Dvorak,
- Stephan Gehring,
- Andrew Gennery,
- Kimberly C Gilmour,
- Luis I Gonzalez-Granado,
- Ute Groß-Wieltsch,
- Marianne Ifversen,
- Jenny Lingman-Framme,
- Susanne Matthes-Martin,
- Rolf Mesters,
- Isabelle Meyts,
- Joris M van Montfrans,
- Jana Pachlopnik Schmid,
- Sung-Yun Pai,
- Pere Soler-Palacin,
- Uta Schuermann,
- Volker Schuster,
- Markus G. Seidel,
- Carsten Speckmann,
- Polina Stepensky,
- Karl-Walter Sykora,
- Bianca Tesi,
- Thomas Vraetz,
- Catherine Waruiru,
- Yenan T. Bryceson,
- Despina Moshous,
- Kai Lehmberg,
- Michael B Jordan,
- Stephan Ehl
Affiliations
- Sebastian FN Bode
- Center of Chronic Immunodeficiency, University Medical Center Freiburg, Germany;Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Germany
- Sandra Ammann
- Center of Chronic Immunodeficiency, University Medical Center Freiburg, Germany;Faculty of Biology, University of Freiburg, Germany
- Waleed Al-Herz
- Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait
- Mihaela Bataneant
- Discipline of Pediatrics III, Victor Babes University of Medicine and Pharmacy Timisoara, Romania
- Christopher C Dvorak
- Pediatric Allergy, Immunology and Blood and Marrow Transplant Division, UCSF, Benioff Children’s Hospital, San Francisco, California, USA
- Stephan Gehring
- Center for Pediatrics and Adolescent Medicine, Mainz, Germany
- Andrew Gennery
- Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK
- Kimberly C Gilmour
- Camelia Botnar Laboratories, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
- Luis I Gonzalez-Granado
- Immunodeficiencies Unit, Hematology & Oncology Unit, Pediatrics, Hospital 12 Octubre, Madrid, Spain
- Ute Groß-Wieltsch
- Pediatric Hematology, Oncology and Immunology, Olga Hospital, Stuttgart, Germany
- Marianne Ifversen
- Department of Pediatrics, Copenhagen University Hospital, Rigshospitalet, Denmark
- Jenny Lingman-Framme
- Department of Pediatrics, Halland Hospital, Halmstad, Sweden
- Susanne Matthes-Martin
- St Anna Children’s Hospital, Vienna, Austria
- Rolf Mesters
- Department of Medicine/Hematology and Oncology, University Hospital Muenster, Germany
- Isabelle Meyts
- Department of Pediatrics, Department of Micriobiology and Immunology, University Hospitals Leuven, Katholieke Universiteit Leuven, Belgium
- Joris M van Montfrans
- Department of Pediatric Immunology, Wilhelmina Children’s, Hospital/University Medical Centre Utrecht, The Netherlands
- Jana Pachlopnik Schmid
- Jeffrey Modell Diagnostic Center for Primary Immunodeficiencies, University Children’s Hospital Zurich, Switzerland
- Sung-Yun Pai
- Division of Hematology-Oncology, Boston Children’s Hospital and Department of Pediatric Oncology, Dana-Farber Children’s Hospital, Boston, Massachusetts, USA
- Pere Soler-Palacin
- Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d’Hebron, Universitat Autònoma de Barcelona, Spain
- Uta Schuermann
- Children’s Hospital of Datteln, University of Witten-Herdecke, Datteln, Germany
- Volker Schuster
- Hospital for Children and Adolescents, University of Leipzig, Germany
- Markus G. Seidel
- Pediatric Hematology-Oncology, Medical University of Graz, Austria
- Carsten Speckmann
- Center of Chronic Immunodeficiency, University Medical Center Freiburg, Germany;Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Germany
- Polina Stepensky
- Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah Hebrew University Hospital, Jerusalem, Israel
- Karl-Walter Sykora
- Pediatric Hematology-Oncology, Medical School Hannover, Germany
- Bianca Tesi
- Childhood Cancer Research Unit, Department of Women’s and Children’s Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden
- Thomas Vraetz
- Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Germany
- Catherine Waruiru
- Sheffield Children’s Hospital, NHS Foundation Trust, UK
- Yenan T. Bryceson
- Center for Infectious Medicine, Department of Medicine, Karolinska Institutet, University Hospital Huddinge, Stockholm, Sweden
- Despina Moshous
- Unit for Pediatric Immunology, Hematology and Rheumatology (UIHR), Hôpital Necker-Enfants Malades, Paris, France
- Kai Lehmberg
- Department of Hematology and Oncology, Children’s Hospital, University of Hamburg, Germany
- Michael B Jordan
- Division of Bone Marrow Transplantation and Immunodeficiency, Cincinnati Children’s Hospital Medical Center, University of Cincinnati Medical School, Ohio, USA
- Stephan Ehl
- Center of Chronic Immunodeficiency, University Medical Center Freiburg, Germany;Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Germany
- DOI
- https://doi.org/10.3324/haematol.2014.121608
- Journal volume & issue
-
Vol. 100,
no. 7
Abstract
Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome defined by clinical and laboratory criteria. Current criteria were created to identify patients with familial hemophagocytic lmyphohistiocytosis in immediate need of immunosuppressive therapy. However, these criteria also identify patients with infection-associated hemophagocytic inflammatory states lacking genetic defects typically predisposing to hemophagocytic lymphohistiocytosis. These patients include those with primary immunodeficiencies, in whom the pathogenesis of the inflammatory syndrome may be distinctive and aggressive immunosuppression is contraindicated. To better characterize hemophagocytic inflammation associated with immunodeficiencies, we combined an international survey with a literature search and identified 63 patients with primary immunodeficiencies other than cytotoxicity defects or X-linked lymphoproliferative disorders, presenting with conditions fulfilling current criteria for hemophagocytic lymphohistiocytosis. Twelve patients had severe combined immunodeficiency with
