Area of research
Immunology · Genetics
Research interest
Research interests include Medicine, Immunology, Biology, Genetics, Transplantation, and Germline.
Clinical and functional spectrum of RAC2-related immunodeficiency
Germline mutations in a G protein identify signaling cross-talk in T cells
Heterozygous <i>BTNL8</i> variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection
Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review
Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated <i>RPSA</i> exons
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome
Visceral leishmaniasis in two patients with IL‐12p40 and IL‐12Rβ1 deficiencies
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes