Area of research
Immunology · Public Health, Environmental and Occupational Health
Research interest
Research focused on Phenotype and Immunology, with related work in Primary immunodeficiency, CTLA-4, Hematopoietic stem cell transplantation. Notable publications include 'Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations', 'Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects', and 'The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency'.
Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review
A European‐Japanese study on peach allergy: <scp>IgE</scp> to Pru p 7 associates with severity
Therapeutic options for CTLA-4 insufficiency
Development and validation of the food allergy severity score
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Walnut Allergy Across Europe: Distribution of Allergen Sensitization Patterns and Prediction of Severity
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects
Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers
Mini-review: Can non-human leucocyte antigen genes determine susceptibility to severe dengue syndromes?
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation
Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
Health sector costs of self-reported food allergy in Europe: a patient-based cost of illness study
Kiwifruit allergy across Europe: Clinical manifestation and IgE recognition patterns to kiwifruit allergens