Biblio
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency. J Allergy Clin Immunol. 2022.
CD3+TCRαβ/CD19+ depleted mismatched family or unrelated donor salvage stem cell transplantation for graft dysfunction in inborn errors of immunity. Transplant Cell Ther. 2023.
Congenital nephrotic syndrome in IL7Rα-SCID - a rare feature of materno-foetal graft-versus-host disease. J Allergy Clin Immunol Pract. 2021.
. Conjunctival epithelial cells resist productive SARS-CoV-2 infection. Stem Cell Reports. 2022.
Curation and Expansion of Human Phenotype Ontology for Defined Groups of Inborn Errors of Immunity. J Allergy Clin Immunol. 2021.
Defective neutrophil development and specific granule deficiency caused by a homozygous splice site mutation in SMARCD2. J Allergy Clin Immunol. 2020.
. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study. Lancet Haematol. 2024;11(2):e114-e126.
Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome. J Allergy Clin Immunol. 2022.
Naïve B cells followed by aquaporin-4 antibodies characterise the onset of neuromyelitis optica: evidence from stem cell transplantation. J Neurol Neurosurg Psychiatry. 2022.
. Outcome of autoimmune cytopenia after hematopoietic cell transplantation in primary immunodeficiency. J Allergy Clin Immunol. 2020.
Outcome of Hematopoietic Stem Cell Transplantation in patients with Mendelian Susceptibility to Mycobacterial Diseases. J Clin Immunol. 2021.
. . Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards. Nat Rev Gastroenterol Hepatol. 2023.
TCRαβ-Depleted Haploidentical Grafts Are a Safe Alternative to HLA-Matched Unrelated Donor Stem Cell Transplants for Infants with Severe Combined Immunodeficiency. J Clin Immunol. 2022.
Therapeutic options for CTLA-4 Insufficiency. J Allergy Clin Immunol. 2021.