Biblio
Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers. J Clin Immunol. 2023.
Curation and Expansion of Human Phenotype Ontology for Defined Groups of Inborn Errors of Immunity. J Allergy Clin Immunol. 2021.
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn Syndrome. J Allergy Clin Immunol. 2020.
Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC Study. J Allergy Clin Immunol. 2019.
Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9. J Allergy Clin Immunol. 2023.
JAK-inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID and EBMT IEWP retrospective study. J Allergy Clin Immunol. 2023.
Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T-cell Deficiencies. Biol Blood Marrow Transplant. 2020.
TREC Newborn Screening Fails to Detect Immunodeficiency, Centromeric instability, and Facial Anomalies Syndrome. J Allergy Clin Immunol Pract. 2023.