Area of research
Immunology · Genetics
Research interest
Research focused on Autoimmune hepatitis and Immunology, with related work in Congenital Neutropenia, Hematopoietic stem cell transplantation, Primary immunodeficiency. Notable publications include 'Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy', 'The phenotype of human STK4 deficiency', and 'Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome'.
Detection of polyreactive immunoglobulin G facilitates diagnosis in children with autoimmune hepatitis
Quantification of polyreactive immunoglobulin G facilitates the diagnosis of autoimmune hepatitis
Pediatric autoimmune hepatitis shows a disproportionate decline of regulatory T cells in the liver and of IL-2 in the blood of patients undergoing therapy
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
Very Early Onset Inflammatory Bowel Disease Associated with Aberrant Trafficking of IL-10R1 and Cure by T Cell Replete Haploidentical Bone Marrow Transplantation
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy
The phenotype of human STK4 deficiency
EBV-Specific T-Cell Immunity in Pediatric Solid Organ Graft Recipients With Posttransplantation Lymphoproliferative Disease