Biblio
Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency. Clin Immunol. 2016.
Persisting enteropathy and disturbed adaptive mucosal immunity due to MHC class II deficiency. Clin Immunol. 2019.
Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome. J Allergy Clin Immunol. 2022.
Matched versus Haploidentical Hematopoietic Stem Cell Transplantation as Treatment Options for Primary Immunodeficiencies in Children. Biol Blood Marrow Transplant. 2020.
. Long-term robustness of a T-cell system emerging from somatic rescue of a genetic block in T-cell development. EBioMedicine. 2020;59:102961.
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity. Clin Immunol. 2019:108316.
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study. Lancet Haematol. 2024;11(2):e114-e126.