Biblio
Alloantigen-specific type 1 regulatory T cells suppress through CTLA-4 and PD-1 pathways and persist long-term in patients. Sci Transl Med. 2021;13(617):eabf5264.
AML/T cell interactomics uncover correlates of patient outcomes and the key role of ICAM1 in T cell killing of AML. Leukemia. 2024.
Autoantibodies to Harmonin and Villin Are Diagnostic Markers in Children with IPEX Syndrome. PLoS One. 2013;8(11):e78664.
. The Biology of T Regulatory Type 1 Cells and Their Therapeutic Application in Immune-Mediated Diseases. Immunity. 2018;49(6):1004-1019.
. Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition. Front Immunol. 2023;14:1328005.
Chemically modified guide RNAs enhance CRISPR-Cas genome editing in human primary cells. Nat Biotechnol. 2015.
Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies. Nat Rev Gastroenterol Hepatol. 2015.
. Epigenetic and Immunological Indicators of IPEX Disease in subjects with FOXP3 gene mutation. J Allergy Clin Immunol. 2022.
Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3. Blood. 2015.
FOXP3 deficiency, from the mechanisms of the disease to curative strategies. Immunol Rev. 2023.
. FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome. J Clin Immunol. 2023.
Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with mutations. Sci Transl Med. 2023;15(727):eadg6822.
IPEX Syndrome from diagnosis to cure, learning along the way. J Allergy Clin Immunol. 2023.
. Severe autoinflammation in four patients with C-terminal variants in CDC42 successfully treated with IL-1β inhibition. J Allergy Clin Immunol. 2019.
Treatment with Rapamycin Can Restore Regulatory T Cell Function in IPEX Patients. J Allergy Clin Immunol. 2019.