Area of research
Immunology · Genetics
Research interest
Research focused on Phenotype and Transplantation, with related work in Gain of function, Hematopoietic stem cell transplantation, Common variable immunodeficiency. Notable publications include 'Clinical picture and treatment of 2212 patients with common variable immunodeficiency', 'Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype', and 'Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study'.
Efficacy and safety of trimodulin, a novel polyclonal antibody preparation, in patients with severe community-acquired pneumonia: a randomized, placebo-controlled, double-blind, multicenter, phase II trial (CIGMA study)
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options – a Retrospective Analysis
Clinical picture and treatment of 2212 patients with common variable immunodeficiency
Very Early Onset Inflammatory Bowel Disease Associated with Aberrant Trafficking of IL-10R1 and Cure by T Cell Replete Haploidentical Bone Marrow Transplantation
Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study
Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency
A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy