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

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.
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Coordinator

UNIVERSITY COLLEGE LONDON

Address

Gower Street
Wc1e 6bt London

United Kingdom

Activity type

Other

EU Contribution

€ 749 399

Administrative Contact

Greta Borg-Carbott (Ms.)

Participants (12)

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KAROLINSKA INSTITUTET

Sweden

EU Contribution

€ 468 000

UNIVERSITAETSKLINIKUM FREIBURG

Germany

EU Contribution

€ 465 600

UNIVERSITA DEGLI STUDI DI ROMA LA SAPIENZA

Italy

EU Contribution

€ 165 600

MEDIZINISCHE HOCHSCHULE HANNOVER

Germany

EU Contribution

€ 186 200

UNIVERSITA DEGLI STUDI DI BRESCIA

Italy

EU Contribution

€ 180 000

INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE

France

EU Contribution

€ 198 000

THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UNIVERSITY OF OXFORD

United Kingdom

EU Contribution

€ 66 000

Masarykova univerzita

Czechia

EU Contribution

€ 66 000

VERENIGING VOOR CHRISTELIJK HOGER ONDERWIJS WETENSCHAPPELIJK ONDERZOEK EN PATIENTENZORG

Netherlands

EU Contribution

€ 66 000

THE BINDING SITE GMBH

Germany

EU Contribution

€ 65 599,80

OSPEDALE PEDIATRICO BAMBINO GESU

Italy

EU Contribution

€ 165 600

UNIVERSITAETSMEDIZIN GOETTINGEN - GEORG-AUGUST-UNIVERSITAET GOETTINGEN - STIFTUNG OEFFENTLICHEN RECHTS

Germany

EU Contribution

€ 144 999

Project information

Grant agreement ID: 201549

Status

Closed project

  • Start date

    1 May 2008

  • End date

    30 April 2011

Funded under:

FP7-HEALTH

  • Overall budget:

    € 3 942 625

  • EU contribution

    € 2 986 998

Coordinated by:

UNIVERSITY COLLEGE LONDON

United Kingdom