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The Pathophysiology and Natural Course of Patients with Primary Antibody Deficiencies (PAD)

Objective

This medium-sized collaborative project will document and monitor the natural course and study the pathophysiology of Primary Antibody Deficiencies (PAD). PADs are rare inborn errors of the immune system with an estimated incidence of <1:25.000. The defective immunity in patients with PAD causes an increased susceptibility to recurrent infections of the respiratory- and gastro-intestinal tract as well as ill defined co-morbidity including granulomatous disease, lymphocytic organ infiltration and (paradoxically) autoimmunity. Our consortium cares for more than 1000 PAD patients, representing approx. 50% of the patients registered in Europe, many of them being children. We propose to: 1. Combine clinical and research data in a central online registry, complemented by a sample repository (WP1) 2. Elucidate the genetic cause of PADs by linkage analysis and candidate gene approaches (WP2) 3. Establish in vitro models for B cell differentiation steps that are defective in PADs such as in vitro class switch recombination, and siRNA knockdown models for PAD screening (WP3) 4. Create mouse models of PAD by using several technology platforms including knock-in and knock-out mice, shRNA mediated gene knock-down and humanised mice (WP4) 5. Perform translational research by taking the observations from the patients into the basic research projects and transfer these results back to the patients (WP5) The study of these immunodeficiencies represent an ‘experiment of nature’, uniquely enabling researchers to study the detrimental effects of mutations in specific genes involved in the immune system. Basic research results are translated into the development of new technologies, new knowledge, and new therapeutic tools. The clinical results will improve the diagnosis, management and quality of life of PAD patients, leading to future developments of new tests, preventive measures and treatment protocols.

Field of science

  • /natural sciences/biological sciences/genetics and heredity/mutation
  • /medical and health sciences/basic medicine/physiology/pathophysiology
  • /medical and health sciences/basic medicine/immunology

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

University College London
Address
Gower Street
WC1E 6BT London
United Kingdom
Activity type
Higher or Secondary Education Establishments
EU contribution
€ 749 399
Administrative Contact
Greta Borg-Carbott (Ms.)

Participants (12)

KAROLINSKA INSTITUTET
Sweden
EU contribution
€ 468 000
Address
Nobels Vag 5
17177 Stockholm
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Kim Von Schoultz (Ms.)
UNIVERSITAETSKLINIKUM FREIBURG
Germany
EU contribution
€ 465 600
Address
Hugstetter Strasse 49
79106 Freiburg
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Gerhard Henninger (Mr.)
UNIVERSITA DEGLI STUDI DI ROMA LA SAPIENZA
Italy
EU contribution
€ 165 600
Address
Piazzale Aldo Moro 5
00185 Roma
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Tiziana Grisorio (Ms.)
MEDIZINISCHE HOCHSCHULE HANNOVER
Germany
EU contribution
€ 186 200
Address
Carl-neuberg-strasse 1
30625 Hannover
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Dieter Schmid (Mr.)
UNIVERSITA DEGLI STUDI DI BRESCIA
Italy
EU contribution
€ 180 000
Address
Piazza Mercato 15
25121 Brescia
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Antonella Melito (Dr.)
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
France
EU contribution
€ 198 000
Address
Rue De Tolbiac 101
75654 Paris
Activity type
Research Organisations
Administrative Contact
Annick Bertault (Ms.)
THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UNIVERSITY OF OXFORD
United Kingdom
EU contribution
€ 66 000
Address
Wellington Square University Offices
OX1 2JD Oxford
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Pam Nieto (Ms.)
Masarykova univerzita
Czechia
EU contribution
€ 66 000
Address
Zerotinovo Namesti 9
60177 Brno Stred
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Petr Fiala (Prof.)
VERENIGING VOOR CHRISTELIJK HOGER ONDERWIJS WETENSCHAPPELIJK ONDERZOEK EN PATIENTENZORG
Netherlands
EU contribution
€ 66 000
Address
De Boelelaan 1105
1081 HV Amsterdam
Activity type
Higher or Secondary Education Establishments
Administrative Contact
S Tromp (Ms.)
THE BINDING SITE GMBH
Germany
EU contribution
€ 65 599,80
Address
Robert-bosch-straße 2A
68723 Schwetzingen
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Lars Küehne (Mr.)
OSPEDALE PEDIATRICO BAMBINO GESU
Italy
EU contribution
€ 165 600
Address
Piazza Sant Onofrio 4
00165 Roma
Activity type
Other
Administrative Contact
Massimo Spina (Dr.)
UNIVERSITAETSMEDIZIN GOETTINGEN - GEORG-AUGUST-UNIVERSITAET GOETTINGEN - STIFTUNG OEFFENTLICHEN RECHTS
Germany
EU contribution
€ 144 999
Address
Robert-koch-strasse 40
37075 Goettingen
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Christiane Hennecke (Ms.)