A5018381077- Autoimmune and Inflammatory Disorders Research
- Adolescent and Pediatric Healthcare
- Childhood Cancer Survivors' Quality of Life
- Family and Disability Support Research
- Calcium signaling and nucleotide metabolism
- Dermatology and Skin Diseases
- melanin and skin pigmentation
- Skin Protection and Aging
- Lysosomal Storage Disorders Research
- RNA regulation and disease
- Neurogenetic and Muscular Disorders Research
- Erythrocyte Function and Pathophysiology
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Advancements in Transdermal Drug Delivery
- Immunodeficiency and Autoimmune Disorders
- Psoriasis: Treatment and Pathogenesis
- Cytomegalovirus and herpesvirus research
University of Freiburg
2021-2025
University of Konstanz
2021
Colchester Hospital
2006
St Bartholomew's Hospital
2006
Keratinocytes control tissue homeostasis and skin inflammation via immunosuppressive glucocorticoids.
Genetic screening for severe congenital immuno-hematological diseases offers potential early intervention, particularly through preemptive allogeneic stem cell transplantation (HSCT). However, the clinical value of such depends on precise prognostic predictions based genotype-phenotype correlations and/or functional confirmation. We investigated familial hemophagocytic lymphohistiocytosis type 2 (FHL2), caused by PRF1 variants. Specifically we evaluated significance frequent A91V variant, if...
Hermansky-Pudlak syndrome (HPS), a rare heterogeneous autosomal recessive disorder, is characterized by oculocutaneous albinism (OCA) and bleeding diathesis due to defect regarding melanosomes platelet delta (δ)-granule secretion. Interestingly, patients with HPS type 2 (HPS-2) or 10 (HPS-10) present additionally an immunological defect. We investigated three (IP1, IP2, IP3) who suffer from diathesis. Platelet aggregometry showed impaired function flow cytometry revealed severely reduced...
Hemophagocytic lymphohistiocytosis (HLH) is a disorder of uncontrolled immune activation with distinct clinical features including fever, cytopenia, splenomegaly, and sepsis-like symptoms. In young adolescent patient novel germline GATA2 variant (NM_032638.5 (GATA2): c.177C>G, p.Tyr59Ter) was discovered had resulted in non-tuberculous mycobacterial (NTM) infection aggressive HLH. Strikingly, impaired degranulation cytotoxic T-lymphocytes (CTL) natural killer (NK)-cells detected...
ABSTRACT Primary hemophagocytic lymphohistiocytosis (HLH) is a life‐threatening hyperinflammatory syndrome caused by inborn errors of cytotoxicity. Patients with biallelic PRF1 null mutations (encoding perforin) usually develop excessive immune cell activation, hypercytokinemia, and immunopathology in the first 6 months life, often without an apparent infectious trigger. In contrast, perforin‐deficient (PKO) mice only HLH after systemic infection lymphocytic choriomeningitis virus (LCMV). We...
ABSTRACT Occasional serum samples (<0.5%) tested by indirect immunofluorescence showed less fluorescence than did negative-control serum. A retrospective review of these patients' immunoglobulins revealed a high percentage abnormalities (71%, versus 22% controls). We suggest that this observation should be reported when seen and the clinician alerted to an association with immunoglobulin abnormalities.