A5 Primary immunodeficiencies predisposing to severe bacterial infections


PRINCIPAL INVESTIGATOR
AND CO-INVESTIGATORS
OF THE SUBPROJECT

von Bernuth

Horst von Bernuth

von Bernuth, PD Dr. med.
Dept. of Pediatric Pneumology and Immunology
Childrens Hospital Charité
Augustenburger Platz 1
13353 Berlin
Phone: +49 30 450 666-384
Fax: +49 30 450 566-975
E-Mail: horst.von-bernuth@charite.de


TITLE OF SUBPROJECT

Primary immunodeficiencies predisposing to severe bacterial infections


CONDITION/TOPIC

Severe bacterial infections in neonates, infants and young children can be caused by immunodeficiencies in innate immunity


OBJECTIVE(S)

The project addresses how deficiencies in innate immunity cause increased susceptibility for severe bacterial infections. The aim of the project is to identify new disease entities that predispose to severe bacterial infections on the clinical, immunological and genetic level.

 

 

SUMMARY

We aim to identify new inborn immunodeficiencies that predispose to severe bacterial infection on the genetic, immunological and clinical level. Developing the idea of the previous funding period we will focus not only on patients with invasive pneumococcal and staphylococcal infections but on those with severe (= potentially life-threatening) bacterial infections. We will especially focus on patients with onset of symptoms in the neonatal period, in infancy and in early childhood. Our research will be based on a cohort of > 350 patients with severe bacterial infections established at the Charité Berlin since 2008. We will evaluate patients for defects in Toll-like and Interleukin-1-mediated signaling and for a lack of production in pro-inflammatory cytokines (candidate gene approach) and investigate isolated patients with an impressive clinical phenotype by a whole-exome sequencing approach.