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ProFiLE:Standardized multi-parameter flow cytometry for early diagnosis, risk assessment and optimized treatment in primary immunodeficiency KU Leuven

Xavier Bossuyt
Clinical and Diagnostic Immunology

Primary Immune Deficiency diseases (PIDs) comprise a heterogeneous group of life-threatening genetic disorders of the innate and adaptive immune system. To date, more than 400 different PID subtypes with more than 300 PID causing genes have been unraveled. However, there is still a lot of underdiagnosis due to the clinical heterogeneity in disease presentation even among patients with the same genetic pathogenic variant. Further complicating ...

Contemporary challenges in Human Immunodeficiency Virus Pre-Exposure-Prophylaxis care in Belgium Institute of Tropical Medicine

Veronique Verhoeven, Eric Florence, Christopher Kenyon
HIV/STI Clinic, Sexually Transmitted Infections
Human Immunodeficiency Virus (HIV) Pre-Exposure-Prophylaxis (PrEP) is a very effective way to prevent HIV acquisition when correctly taken.1–4 It has been rolled-out in Belgium in 2017 for people at high risk of HIV acquisition like men-who-have-sex-with-men (MSM).5 Its uptake is continuously increasing, with just over 4000 patients having ever subscribed for PrEP through the Belgian public healthcare system between 2017 and 2019, 97.6% of them ...

Clinical, Immunological and genetic study of patients with primary humoral immunodeficiency KU Leuven

Isabelle Meyts
Inborn Errors of Immunity

Primary humoral immunodeficiencies are characterized by defect in antibody function, impaired antibodies production or both, ranging from Specific Polysaccharide Antibody Deficiency (SPAD) to agammaglobulinemia. In this project, we will focus on Primary Antibody Deficiencies (PAD) involving the BCR signaling pathway (especially PLCγ2/Calcineurin/NFAT and PI3K-Akt pathways). We hypothesize than PLCG2, PIK3CD and IRF2BP2 play a key ...

Targeting the immunodeficiency and neurodegeneration in a hereditary sensory neuropathy (HSAN type I) associated with dysfunction of the serine palmitoyltransferase. University of Antwerp

Vincent Timmerman
Peripheral Neuropathies Group
Since the discovery of disease-causing mutations in genes coding for the serine palmitoyltransferase (SPT) subunits SPTLC1 and SPTLC2, much progress has been made in understanding the underlying pathophysiology of hereditary sensory and autonomic neuropathy type I (HSAN-I). Dominant mutations in SPTLC1 and SPTLC2 influence the substrate specificity of the SPT enzyme leading to the formation of toxic deoxysphingolipids. Indeed, the mutant enzyme ...

Evaluation of the clinical characteristics and molecular determinants of primary immunodeficiency in adults. KU Leuven

Rik Schrijvers
Allergy and Clinical Immunology Research Group, Adaptive Immunology, Université de Lille, The Rockefeller University, University of Helsinki

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 ...

Evaluation of the molecular determinants of primary immunodeficiency in adult patients, pathogenesis of STAT1 gain-of-function and evaluation of gene therapeutic approaches. KU Leuven

Rik Schrijvers
Allergy and Clinical Immunology Research Group

Primary immunodeficiencies (PIDs) have provided crucial information for the elucidation of immunological pathways. Although many causal mutations in PID patients have been identified, the exact pathogenesis often remains to be elucidated and clues for an individualized therapeutic approach remain absent. In this project we focus on adult patients with a confirmed or suspected primary immunodeficiency. We explore a genetic cause in patients ...

Analysis of the molecular determinants of adult primary immunodeficiency. KU Leuven

Rik Schrijvers
Allergy and Clinical Immunology Research Group
Primary immunodeficiencies (PIDs) have provided crucial information for the elucidation of immunological pathways. Although typically regarded as a pediatric condition, around 25-40% of PIDs are diagnosed in adulthood. Delayed diagnosis, but also incomplete penetrance, marked heterogeneous genotype-phenotype relationships are increasingly being recognized. However, the pathogenesis in a large proportion of PID patients remains ...

Impact of stromal cells of different lymphoid tissues on the replication of feline immunodeficiency virus in monocytic cells and T-lymphocytes Ghent University

Hans Nauwynck
Department of Translational Physiology, Infectiology and Public Health

FIV is an important cat pathogen that causes a lifelong infection. Recently, it was shown that lymphoid tissues are sites of productive viral replication, while replication is silenced in blood. In this project, stromal cells from different lymphoid tissues (lymph nodes, bone marrow, spleen) will be isolated and immortalized and their positive effect on FIV replication in monocytic cells and T-lymphocytes will be examined.

Use of an integrative classification system and next-generation sequencing strategies for gene identification in common variable immunodeficiency disorder (CVID) Ghent University

Karim Vermaelen
Department of Internal medicine

Common variable immunodeficiency disorder (CVID) is a group of diseases in which the capacity to produce antibodies (immunoglobulins, Igs) against microbial infections is impaired. There is a marked decrease in one or more Ig classes and the number and/or function of certain B lymphocyte subsets may be reduced. In addition to an increased susceptibility to infections, CVID is also associated with auto-immune and malignant conditions. The ...