Biblio
Evidence of innate lymphoid cell redundancy in humans. Nat Immunol. 2016.
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds. PLoS One. 2018;13(10):e0205826.
A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency. J Clin Immunol. 2019.
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients. JCI Insight. 2019;5.
Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC Study. J Allergy Clin Immunol. 2019.
Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series. J Clin Immunol. 2020.
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn Syndrome. J Allergy Clin Immunol. 2020.
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome. J Allergy Clin Immunol. 2021.
Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity. J Allergy Clin Immunol. 2021.
Allogeneic stem cell transplantation compared to conservative management in adults with inborn errors of immunity. Blood. 2022.
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT inborn errors working party analysis. Blood. 2022.
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients. Bone Marrow Transplant. 2022.
Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome. J Allergy Clin Immunol. 2022.
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency. Nature. 2023.
Chronic Aichi virus infection as a cause of long-lasting multi-organ involvement in patients with primary immune deficiencies. Clin Infect Dis. 2023.
Decision making on HSCT in patients with hemoglobinopathies; an EBMT Pediatric Diseases Working Party and Inborn Errors Working Party scenario-based survey on physicians' perspectives. Bone Marrow Transplant. 2023.
Decrease of lethal infectious complications in the context of causes of death (COD) after hematopoietic cell transplantation: COD-2 and COD-1 study of the Infectious Diseases Working Party EBMT. Bone Marrow Transplant. 2023.