Objective Haemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening inherited immune disorder of early childhood characterised by an uncontrolled immune response. Three disease causing genes have been identified in about half of the patients. Diagnosis is difficult, pathophysiology poorly understood, and treatment unsatisfactory with about 40% of the children dying from treatment failure or toxicity. All European scientists active in research and treatment of HLH have joined in a consortium to enforce collaboration, combine the various expertises, and provide access to material and data. In vitro studies and several murine models for HLH and diseases predisposing to HLH, will be used to get more insight into the pathophysiology of the diverse genetic defects. Studies will address the role of triggers and antigen-presenting cells, the influence of cytokines in the initiation and propagation of the uncontrolled immune response, the interaction of immune effector cells and soluble factors, and the mechanism of cytotoxicity in lymphocytes and natural killer cells. Data about geno-phenotype will be combined to evaluate how known and unknown genetic defects reflect on the clinical course and immunophenotype of the patients. A diagnostic algorithm, incorporating knowledge from the known defects, will be developed and optimised in all countries to facilitate earlier and reliable diagnosis, and to separate patients with unknown defects or acquired HLH. The identification of risk factors for treatment failure and toxicity will be used to design improved treatment strategies. An experimental treatment will be tested in a murine model and will be the basis for a less toxic treatment in the future. Earlier diagnosis, better insight into the pathophysiology, and development of less toxic treatments are the steps towards a higher cure rate in HLH. In a rare disease as HLH, only combined efforts on an European-wide level will be able to achieve these goals. Fields of science medical and health sciencesbasic medicinephysiologypathophysiologymedical and health sciencesbasic medicineimmunology Keywords children genetic disease haemophagocytosis histiocytosis immunodeficiency murine model Programme(s) FP7-HEALTH - Specific Programme "Cooperation": Health Topic(s) HEALTH-2007-2.4.4-1 - Natural course and pathophysiology of rare diseases Call for proposal FP7-HEALTH-2007-A See other projects for this call Funding Scheme CP-FP - Small or medium-scale focused research project Coordinator UNIVERSITAETSKLINIKUM HAMBURG-EPPENDORF EU contribution € 546 987,00 Address Martinistrasse 52 20251 Hamburg Germany See on map Region Hamburg Hamburg Hamburg Activity type Higher or Secondary Education Establishments Administrative Contact Kai Lehmberg (Dr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data Participants (8) Sort alphabetically Sort by EU Contribution Expand all Collapse all UNIVERSITA DEGLI STUDI DI BRESCIA Italy EU contribution € 346 200,00 Address PIAZZA MERCATO 15 25121 Brescia See on map Region Nord-Ovest Lombardia Brescia Activity type Higher or Secondary Education Establishments Administrative Contact Raffaele Badolato (Prof.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data FORSCHUNGSZENTRUM BORSTEL LEIBNIZ LUNGENZENTRUM Germany EU contribution € 548 213,00 Address PARKALLEE 1-40 23845 Borstel See on map Region Schleswig-Holstein Schleswig-Holstein Segeberg Activity type Research Organisations Administrative Contact Susann Schrader (Ms.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data UNIVERSITAETSKLINIKUM FREIBURG Germany EU contribution € 486 920,00 Address HUGSTETTER STRASSE 49 79106 Freiburg See on map Region Baden-Württemberg Freiburg Freiburg im Breisgau, Stadtkreis Activity type Higher or Secondary Education Establishments Administrative Contact Gerhard Henninger Links Contact the organisation Opens in new window Website Opens in new window Total cost No data THE CHANCELLOR MASTERS AND SCHOLARS OF THE UNIVERSITY OF CAMBRIDGE United Kingdom EU contribution € 72 170,00 Address TRINITY LANE THE OLD SCHOOLS CB2 1TN Cambridge See on map Region East of England East Anglia Cambridgeshire CC Activity type Higher or Secondary Education Establishments Administrative Contact Dawn Barker (Ms.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data KAROLINSKA INSTITUTET Sweden EU contribution € 300 720,00 Address Nobels Vag 5 17177 Stockholm See on map Region Östra Sverige Stockholm Stockholms län Activity type Higher or Secondary Education Establishments Administrative Contact Thomas Walstam (Mr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE France EU contribution € 414 330,00 Address RUE DE TOLBIAC 101 75654 Paris See on map Region Ile-de-France Ile-de-France Paris Activity type Research Organisations Administrative Contact Annick Bertault (Ms.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data AZIENDA OSPEDALIERA UNIVERSITARIA MEYER IRCCS Italy EU contribution € 168 852,00 Address VIALE PIERACCINI 24 50139 Firenze See on map Region Centro (IT) Toscana Firenze Activity type Research Organisations Administrative Contact Massimo Braganti (Dr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data ISTITUTO GIANNINA GASLINI Italy EU contribution € 110 550,00 Address VIA GEROLAMO GASLINI 5 16147 Genova See on map Region Nord-Ovest Liguria Genova Activity type Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments) Administrative Contact Patrizia Fabrizi (Dr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data