In the first part of this thesis, we analysed modifying genes encoding proteins involved in innate immune lung defence that influence pulmonary disease severity in cystic fibrosis patients. Firstly, we found that cystic fibrosis patients with mannose binding lectin, ficolin 1 and 2 gene polymorphisms are at risk for earlier onset of chronic Pseudomonas aeruginosa (Pa) colonisation.1 Secondly, we identified the involvement of toll-like receptor 1, 2 and 5 in the modulation of cystic fibrosis lung disease.2

In the second part of the thesis, we explored the innate immune response and genetic defects in patients with chronic inflammatory and infectious disease. We described at first a complete factor I deficiency caused by dysfunctional factor I in a patient with recurrent aseptic meningoencephalitis. Furthermore, we reported a novel mutation in the IL-12receptorβ1 gene and we described c.1623_1624delGCinsTT mutation as the first founder effect on the IL-12Rβ1 gene. A large survey on 141 patients with IL-12Rβ1 deficiency reports a less favourable outcome, especially in patients with environmental mycobacteria.

In the scope of this journal, we will highlight the most important findings of the second part of this thesis.

(BELG J HEMATOL 2015;6(1):37–9)