Area of research
Immunology · Hematology
Research interest
Research interests include Immunodeficiency and Autoimmune Disorders, Immune Cell Function and Interaction, T-cell and B-cell Immunology, and Hematopoietic Stem Cell Transplantation.
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee
The 2024 update of IUIS phenotypic classification of human inborn errors of immunity
Rare disease gene association discovery in the 100,000 GenomesProject
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency
Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
Single-cell multi-omics analysis of the immune response in COVID-19
Immunogenicity of standard and extended dosing intervals of BNT162b2 mRNA vaccine
The expansion of human T-bet <sup>high</sup> CD21 <sup>low</sup> B cells is T cell dependent
Therapeutic options for CTLA-4 insufficiency
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
An essential role for the Zn2+ transporter ZIP7 in B cell development
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease
Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency
PEPtalk2: results of a pilot randomised controlled trial to compare VZIG and aciclovir as postexposure prophylaxis (PEP) against chickenpox in children with cancer
Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea
Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome
Dedicator of cytokinesis 8–deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells
Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets
Varicella zoster virus infection
Impairment of immunity to <i>Candida</i> and <i>Mycobacterium</i> in humans with bi-allelic <i>RORC</i> mutations
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8K108E mutation
Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency