Inborn errors of Th17 immunity predispose patients to chronic and invasive fungal infections. The
IL-6/JAK2/STAT3 axis is recognized as a vital Th17 inducing signaling cascade and STAT3 mutations
are frequent in these patients. We identified a novel JAK2 mutation in a family with recurrent fungal
infections and a proven Th17 defect. Functional analysis revealed normal JAK2-STAT signaling. Based
on ...
Neuroimmune disorders in previously healthy children often have a
detrimental outcome. Unfortunately, an integrated view on the
pathophysiology and genetic causes, combining neurological and
immunological insight, is lacking. However increased knowledge of
the molecular pathogenesis could significantly improve the
management of these diseases. Several inborn errors of immunity
(IEI) ...
Primary immunodeficiency (PID) refers to a heterogeneous group of disorders characterized by poor or absent function in one or more components of the immune system. The prevalence of PID is estimated to be between 1 in 25,000 to 1 in 1200 live births. PID is typically regarded as a pediatric disorder. Nevertheless many PID patients are adults often presenting with clinical symptoms beyond childhood. The disease ...
Human adenosine deaminase type 2 (ADA2) deficiency is a recently described inborn error of immunity with a broad presentation including fever with cutaneous vasculitis but also intracranial hemorrhages, immunodeficiency and bone marrow anomalies. It carries important morbidity and substantial mortality (10%). Bi-allelic mutations in the gene ADA2 are responsible for this rare condition. The gene product, adenosine deaminase 2, plays a role in ...
ADA2 deficiency is a devastating rare inherited disorder caused by biallelic deleterious mutations in the ADA2 gene. Clinical manifestations include vasculopathy ranging from cutaneous vasculopathy (livedo) to lacunar brain infarction. Moreover, patients can have bone marrow failure and immunodeficiency. While anti-TNF agents are usually effective in controlling vasculopathy, bone marrow failure and immunodeficiency are often ...
Despite the progress in living circumstances, in medicine in general and intensive care medicine in particular, some previously healthy children are still dying of or almost succumbing to infection with pathogens that only cause mild illness in most children. A retrospective survey at the University Hospitals Leuven has identified around 10 children with fatal or near-fatal infections per year. It is very likely that these children suffer ...
In this scientific research project we aim to help a group of patients with rare auto-immune and auto-inflamatory conditions by unravelling the pathogenic mutation underlying their disease. These patients may suffer from recurrent fevers, severe arthritis and generalized illness. We will do this by first implementing a screening assay which identifies a rare group of disorders, called interferonopathies. Second, patients identified in ...
Streptococcus pneumoniae is a leading cause of life threatening infections like meningitis, pneumonia and septicaemia and the main pathogen involved in otitis and bronchitis. Pneumococcal capsular polysaccharides are the most important virulence factor of S. pneumoniae. Anti-polysaccharide antibodies have shown to be crucial for opsonisation and effective phagocytosis of S. pneumoniae, thereby providing ...